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Death Statistics for Types of Metabolic disorders

Deaths and Metabolic disorders:

This section presents information about the death rate statistics for the various types of Metabolic disorders.

Death Statistics for Types of Metabolic disorders

Disease

Death Rate Estimate

US deaths estimate

Statistic Used for Calculation

Diabetes approx 1 in 17 or 5.88% or 16 million people in USA 16 million Americans with 10.3 million diagnosed and 8.1 million women (NWHIC); 65 per 1000 - NHIS95; 8 million - perhaps 16 million if include not-yet-diagnosed. 16 million Americans with 10.3 million diagnosed and 8.1 million women (NWHIC); 65 per 1000 - NHIS95; 8 million - perhaps 16 million if include not-yet-diagnosed.
Phenylketonuria (PKU) N/A N/A No information
Metabolic syndrome N/A N/A about 25% of the USA population have insulin resistance
Sodium metabolism disorders N/A N/A No information
Calcium metabolism disorders N/A N/A No information
Hypercalcemia N/A N/A No information
Hypocalcemia N/A N/A No information
Potassium metabolism disorders N/A N/A No information
Hyperkalemia N/A N/A No information
Hypokalemia N/A N/A No information
Phosphate metabolism disorders N/A N/A No information
Magnesium metabolism disorders N/A N/A No information
Acid-Base metabolism disorders N/A N/A No information
Phenylketonuria -- Teratogenic Agent N/A N/A No information
Cardiomyopathy -- hypotonia -- lactic acidosis N/A N/A No information
Diabetes Mellitus, Noninsulin-Dependent, Susceptibility to, 3 N/A N/A No information
Diabetic Ketoacidosis N/A N/A No information
Mitochondrial diseases N/A N/A No information
Hypertriglyceridemia N/A N/A No information
High Cholesterol N/A N/A estimated 101 million Americans have cholesterol >= 200 mg/dL (CDC)
High triglycerides N/A N/A No information
Heterozygous Familial Hypercholesterolemia N/A N/A 1 per 500 US people suffer from Heterozygous familial hypercholesterolemia.
Type IV Hyperlipoproteinemia N/A N/A No information
Familial Apolipoprotein A-I and C-III Deficiency N/A N/A No information
Familial Apolipoprotein A-I, C-III, A-IV Deficiency N/A N/A No information
Type IIa Hyperlipoproteinemia N/A N/A No information
Type IIb Hyperlipoproteinemia N/A N/A No information
Type III Hyperlipoproteinemia N/A N/A No information
Type I Hyperlipoproteinemia N/A N/A No information
Type V Hyperlipoproteinemia N/A N/A No information
Hypobetalipoproteinemia N/A N/A No information
Hereditary Hemochromatosis N/A N/A No information
Osteoporosis N/A N/A 28 million Americans (10 million with osteoporosis; 18 million with low bone mass); eight million American women and 2 million men (NWHIC)
Lipoatrophic diabetes N/A N/A No information
Pearson's anemia N/A N/A No information
Transient osteoporosis of the hip N/A N/A No information
Cycloserine-induced Sideroblastic anemia N/A N/A No information
Postmenopausal osteoporosis N/A N/A No information
Type I spinal osteoporosis N/A N/A No information
Senile osteoporosis N/A N/A No information
Idiopathic osteoporosis N/A N/A No information
Regional migratory osteoporosis N/A N/A No information
Hyperthyroid osteoporosis N/A N/A No information
Localized osteoporosis N/A N/A No information
Disuse osteoporosis N/A N/A No information
Drug-induced osteoporosis N/A N/A No information
Fatty liver disease N/A N/A No information
Alzheimer disease, early-onset, with cerebral amyloid angiopathy N/A N/A No information
Proteinuria N/A N/A No information
Paget's Disease N/A N/A No information
Paget's disease of bone N/A N/A about 3% of people aged over 40; 10% by age 80.
Decreased serum phosphate N/A N/A No information
Decreased serum urea N/A N/A No information
Decreased urine chloride N/A N/A No information
Hypercalcuria N/A N/A No information
Desmosterolosis N/A N/A No information
Hemochromatosis-related diabetes N/A N/A No information
Metabolic syndrome (syndrome X) N/A N/A No information
Deposition diseases related fibromyalgia N/A N/A No information
Inborn errors of thyroid hormone synthesis related to hypothyroidism N/A N/A No information
Type Ia Hyperlipoproteinemia N/A N/A No information
Type Ib Hyperlipoproteinemia N/A N/A No information
Type Ic Hyperlipoproteinemia N/A N/A No information
Type II Hyperlipoproteinemia N/A N/A No information
Hypercholesterolemia, autosomal recessive N/A N/A No information
Homozygous Familial Hypercholesterolemia N/A N/A 1 per 1 million US people suffer from Homozygous familial hypercholesterolemia.
Congenital disorder of glycosylation type 1F N/A N/A No information
Congenital disorder of glycosylation type 1G N/A N/A No information
Congenital disorder of glycosylation type 1H N/A N/A No information
Congenital disorder of glycosylation type 1I N/A N/A No information
Congenital disorder of glycosylation type 1J N/A N/A No information
Congenital disorder of glycosylation type 1K N/A N/A No information
Congenital disorder of glycosylation type 1L N/A N/A No information
Congenital disorder of glycosylation type 1M N/A N/A No information
Congenital disorder of glycosylation type 1/IIX N/A N/A No information
Congenital disorder of glycosylation type 2C N/A N/A No information
Congenital disorder of glycosylation type 2D N/A N/A No information
Congenital disorder of glycosylation type 2E N/A N/A No information
Congenital disorder of glycosylation type 2G N/A N/A No information
Congenital disorder of glycosylation type 2H N/A N/A No information
Congenital disorder of glycosylation type IIH N/A N/A No information
Congenital disorder of glycosylation type 2F N/A N/A No information
Congenital Disorders of Glycosylation N/A N/A No information
Acquired generalized lipodystrophy N/A N/A No information
Renal osteodystrophy N/A N/A No information
Wilson's Disease N/A N/A approximately 1 per 30,000 people suffer from Wilson disease, Genetics Home Reference website
Lactic Acidosis N/A N/A No information
Cystine stone N/A N/A No information
Thyroiditis N/A N/A No information
Hypothyroidism N/A N/A No information
Metabolic Acidosis N/A N/A No information
Leukodystrophy N/A N/A No information
Adrenoleukodystrophy N/A N/A 1 per 20,000 people suffer from X-linked adrenoleukodystrophy, Genetics Home reference website
Classic childhood ALD N/A N/A No information
Adult-onset ALD N/A N/A No information
Female carrier ALD N/A N/A No information
Neonatal ALD N/A N/A No information
Batten Disease N/A N/A No information
Ceroid lipofuscinosis, neuronal 3, Juvenile N/A N/A No information
Ceroid lipofuscinosis, neuronal 4 N/A N/A No information
Ceroid lipofuscinosis, neuronal 6, late infantile N/A N/A No information
Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant N/A N/A No information
Ceroid lipofuscinosis, neuronal 5 N/A N/A No information
Ceroid lipofuscinosis, neuronal 7 N/A N/A No information
Ceroid lipofuscinosis, neuronal 8 N/A N/A No information
Ceroid lipofuscinosis, neuronal 9 N/A N/A No information
Ceroid lipofuscinosis, neuronal 10 N/A N/A No information
Ceroid lipofuscinosis, neuronal N/A N/A No information
Ceroid lipofuscinosis, neuronal 1, infantile N/A N/A No information
Ceroid lipofuscinosis, neuronal 2, late infantile type N/A N/A No information
Santavuori Disease N/A N/A No information
Bielschowsky disease N/A N/A No information
Refsum Disease N/A N/A No information
Primary Emphysema N/A N/A No information
Homozygotic Alpha 1 antitrypsin Defeciency N/A N/A No information
Lactose Intolerance N/A N/A 30 million people to 50 million people (NIDDK 1994); about 25% of population (1994/NIDDK)
Mucopolysaccharidoses N/A N/A No information
Mucopolysaccharidosis II N/A N/A No information
Mucopolysaccharidosis III N/A N/A No information
Mucopolysaccharidosis IV N/A N/A No information
Mucopolysaccharidosis VI N/A N/A No information
Mucopolysaccharidosis VII N/A N/A No information
Hurler syndrome N/A N/A No information
Scheie syndrome N/A N/A No information
Morquio syndrome N/A N/A No information
MPS-IV (Morquio Disease) N/A N/A No information
MPS 3 C N/A N/A No information
MPS 3 D N/A N/A No information
Mucopolysaccharidosis, type 9 N/A N/A No information
Propionic Acidemia N/A N/A No information
Alkaptonuria N/A N/A 1 per 19,000 people suffer from alkaptonuria in parts of Slovakia, Genetics Home Reference website
Methylmalonate Semialdehyde Dehydrogenase Deficiency N/A N/A No information
Alpha-Mannosidosis N/A N/A No information
The Primary Hyperoxalurias N/A N/A No information
Fucosidosis N/A N/A No information
Familial Lipoprotein Lipase Deficiency N/A N/A No information
The Congenital Lactic Acidoses N/A N/A No information
Succinic Semialdehyde Dehydrogenase Deficiency N/A N/A No information
Urea Cycle Disorders N/A N/A No information
Trimethylaminuria N/A N/A No information
Sialidosis N/A N/A No information
Multiple Sulfatase Deficiency N/A N/A No information
Phosphoglycerate Kinase Deficiency N/A N/A No information
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency N/A N/A 1 per 40,000 - 120,000 people suffer from very long-chain acyl-CoA dehydrogenase deficiency, Genetics Home Reference website
Farber Disease N/A N/A No information
Medium-Chain Acyl-CoA Dehydrogenase Deficiency N/A N/A 1 per 17,000 people suffer from medium-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website
Carnitine Deficiency Syndromes N/A N/A No information
Aspartylglucosaminuria N/A N/A No information
Human Cytochrome Oxidase Deficiency N/A N/A No information
Carnitine Palmitoyl Transferase II Deficiency N/A N/A No information
Type V Glycogen Storage Disease N/A N/A No information
McArdle disease N/A N/A No information
Forbes disease N/A N/A No information
Andersen disease N/A N/A No information
Type IV Glycogen Storage Disease N/A N/A No information
Type VII Glycogen Storage Disease N/A N/A No information
Type III Glycogen Storage Disease N/A N/A No information
Glutathione Synthetase Deficiency N/A N/A only about 70 cases of glutathione synthetase deficiency have been reported worldwide, Genetics Home Reference website
Type I Glycogen Storage Disease N/A N/A No information
Von Gierke disease IA N/A N/A No information
Von Gierke disease IB N/A N/A No information
Muscular phosphorylase kinase deficiency N/A N/A No information
Von Gierke Disease N/A N/A No information
Fanconi-Bickel syndrome N/A N/A No information
Type 0 Glycogen Storage Disease N/A N/A No information
Glutaric Acidemia Type II N/A N/A No information
Glut-1 Deficiency Syndrome N/A N/A No information
Hartnup Disease N/A N/A No information
Carnitine Palmitoyl Transferase I Deficiency N/A N/A No information
Cystinuria N/A N/A approximately 1 per 10,000 people are affected by cystinuria, Genetics Home Reference website
HMG-CoA lyase deficiency N/A N/A less than 100 people have been diagnosed with HMG-CoA lyase deficiency worldwide, Genetics Home Reference website
L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency N/A N/A No information
Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency N/A N/A No information
$3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency$ N/A N/A No information
LADHSC deficiency N/A N/A No information
M/SCHAD deficiency N/A N/A No information
SCHAD Deficiency -- formerly N/A N/A No information
HADH deficiency N/A N/A No information
$3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency$ N/A N/A No information
Dicarboxylicaminoaciduria N/A N/A No information
Hyperlipoproteinemia type 2 N/A N/A No information
Phosphoribosylpyrophosphate synthetase superactivity N/A N/A No information
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency N/A N/A No information
Thiopurine S methyltranferase deficiency N/A N/A No information
Tooth Demineralization N/A N/A No information
Metastatic calcinosis cutis N/A N/A No information
Osteoporosis-like fracture of the hip N/A N/A No information
Medication induced osteoporosis N/A N/A No information
Secondary osteoporosis N/A N/A No information
Primary osteoporosis N/A N/A No information
Impaired glucose tolerance- like symptoms as in case of hemochromatosis N/A N/A No information
Acid phosphatase elevation N/A N/A No information
Uremic encephalopathy N/A N/A No information
Alkaline phosphatase elevation N/A N/A No information
Very Long Chain Acyl CoA Dehydrogenase Deficiency -- Early onset N/A N/A No information
Very Long Chain Acyl CoA Dehydrogenase Deficiency -- intermediate N/A N/A No information
Very Long Chain Acyl CoA Dehydrogenase Deficiency -- adult-onset N/A N/A No information
Congenital Disorders of Glycosylation Type Ia N/A N/A No information
Ornithine Transcarbamylase Deficiency N/A N/A No information
Citrullinemia N/A N/A No information
Glycogen Storage Disease Type I N/A N/A No information
$6-pyruvoyl-tetrahydropterin synthase deficiency$ N/A N/A No information
Complex 5 mitochondrial respiratory chain deficiency N/A N/A No information
Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy N/A N/A No information
Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type N/A N/A No information
Complex 4 mitochondrial respiratory chain deficiency N/A N/A No information
Complex 1 mitochondrial respiratory chain deficiency N/A N/A No information
Complex 2 mitochondrial respiratory chain deficiency N/A N/A No information
Berardinelli-Seip congenital lipodystrophy N/A N/A No information
Berardinelli-Seip congenital lipodystrophy, type 1 N/A N/A No information
Berardinelli-Seip congenital lipodystrophy, type 2 N/A N/A No information
Maple syrup urine disease, type 1B N/A N/A No information
Calcinosis N/A N/A No information
Glucose-6-phosphate deficiency N/A N/A No information
Mucolipidosis IV N/A N/A No information
Mucolipidosis type 4 N/A N/A No information
Mucolipidosis type 3 A N/A N/A No information
Mucolipidosis III N/A N/A No information
Mucolipidoses N/A N/A No information
Mucolipidosis type 1 N/A N/A No information
Glutaricaciduria type 1 N/A N/A No information
Glutaric aciduria 1 N/A N/A No information
Acyl-CoA dehydrogenase, very long chain, deficiency of N/A N/A No information
Acyl-CoA dehydrogenase, short chain, deficiency of N/A N/A No information
Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) N/A N/A No information
Decreased bile acid 75-selenium homotaurocholate N/A N/A No information
Glycogen storage disease type 2B -- formerly N/A N/A No information
Pseudoglycogenosis II N/A N/A No information
Glycogen Storage Disease IIb -- formerly N/A N/A No information
GSD2B -- formerly N/A N/A No information
GSD IIB -- formerly N/A N/A No information
Glycogen Storage Disease IXb N/A N/A No information
Glycogen Storage Disease IXa1 N/A N/A No information
Glycogen Storage Disease IXc N/A N/A No information
Type II Glycogen Storage Disease N/A N/A No information
Glycogen storage diseases N/A N/A No information
Glycogen storage disease type 2 N/A N/A No information
Glycogen storage disease type 6A, due to phosphorylase kinase deficiency N/A N/A No information
Sanfilippo syndrome type A N/A N/A No information
Sanfilippo syndrome type B N/A N/A No information
Glycogen storage disease type 6 N/A N/A No information
Glycogen storage disease type 7 N/A N/A No information
Glycogen storage disease type 1C N/A N/A No information
Glycogen storage disease type 2B N/A N/A No information
Glycogen storage disease type 1D N/A N/A No information
Glycogen Storage Disease XIV N/A N/A No information
Uremic pericarditis N/A N/A No information
Bartter Syndrome type 4 N/A N/A No information
Bartter Syndrome type 4A N/A N/A No information
Bartter Syndrome type 4B N/A N/A No information
Bartter Syndrome N/A N/A No information
Bartter's syndrome, antenatal type 1 N/A N/A No information
Bartters syndrome, antenatal , type 2 N/A N/A No information
Bartter's syndrome, type 3 N/A N/A No information
Gaucher disease type 1 N/A N/A 1 per 500 - 1,000 people of Ashkenazi Jewish heritage are affected by type 1 Gaucher disease, Genetics Home Reference website
Gaucher disease type 2 N/A N/A less than 1 per 500,000 births are affected by Gaucher disease type 2, Genetics Home Reference website
Gaucher disease type 3 N/A N/A less than 1 per 100,000 births are affected by Gaucher disease type 3, Genetics Home Reference website
Hypolipoproteinemia N/A N/A No information
Pyruvate kinase deficiency, muscle type N/A N/A No information
Cataract -- intellectual deficit -- anal atresia -- urinary defects N/A N/A No information
Triose phosphate-isomerase deficiency N/A N/A No information
Deafness hyperuricemia neurologic ataxia N/A N/A No information
Mental Retardation, Joint Hypermobility With or without Metabolic Abnormalities N/A N/A No information
Lipodystrophy, partial acquired N/A N/A No information
Growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma N/A N/A No information
Diabetes mellitus, permanent neonatal -- pancreatic and cerebellar agenesis N/A N/A No information
Lipoproteine lipase deficiency N/A N/A No information
Avitaminosis N/A N/A No information
Basal ganglia calcification, idiopathic 1 N/A N/A No information
Basal ganglia calcification, idiopathic 2 N/A N/A No information
Progressive external ophthalmoplegia N/A N/A No information
Lipoproteinemia N/A N/A No information
Lipedema N/A N/A No information
Lipodystrophy N/A N/A No information
Familial Dysbetalipoproteinemia N/A N/A No information
Hyperlipoproteinemia N/A N/A No information
GM2-gangliosidosis, AB variant N/A N/A only a few cases of GM2-gangliosidosis, AB variant reported worldwide, Genetics Home Reference website
Secondary Lactase Deficiency N/A N/A No information
Familial Lactase Deficiency N/A N/A No information
Congenital lactase deficiency N/A N/A No information
Methylmalonic acidemia, cobalamin A deficiency N/A N/A No information
Methylmalonic acidemia, Cobalamin B deficiency N/A N/A No information
Methylmalonicaciduria with homocystinuria, cobalamin F N/A N/A No information
Methylcobalamin deficiency, cbl E complementation type N/A N/A No information
Transcobalamin 2 deficiency N/A N/A No information
Methylcobalamin deficiency cbl G type N/A N/A No information
Defect in synthesis of adenosylcobalamin N/A N/A No information
Transcobalamin I deficiency N/A N/A No information
Cobalamin R Binder Protein Deficiency N/A N/A No information
Cobalamin pseudodeficiency due to transcobalamin deficiency N/A N/A No information
Familial Hypercholesterolemia N/A N/A No information
Metabolic encephalopathy N/A N/A No information
Hyperglycemia N/A N/A No information
Hyperbilirubinemia N/A N/A No information
Uremic frost N/A N/A No information
Leiomyomatosis of esophagus, cataract and hematuria N/A N/A No information
Hypercholesterolemia due to arg3500 mutation of Apo B-100 N/A N/A No information
Hyperinsulinism due to glutamodehydrogenase deficiency N/A N/A No information
Hyperinsulinism due to glucokinase deficiency N/A N/A No information
Phosphate diabetes N/A N/A No information
Familial hyperlipoproteinemia type 1 N/A N/A No information
Familial hyperlipoproteinemia type 3 N/A N/A No information
Hypobetalipoproteinemia, familial N/A N/A No information
Familial hyperlipoproteinemia N/A N/A No information
Familial HDL deficiency N/A N/A No information
Gangliosidosis GM1 type 3 N/A N/A No information
GM1 gangliosidosis N/A N/A No information
Gangliosidosis, generalized GM1 type 2 N/A N/A No information
Gangliosidosis, generalized GM1 type 3 N/A N/A No information
Gangliosidosis generalized GM1, type 1 N/A N/A No information
Neuraminidase deficiency N/A N/A No information
Neuraminidase deficiency, type II, juvenile form N/A N/A No information
Chylomicron retention disease with Marinesco-Sjogren syndrome N/A N/A No information
Albinism N/A N/A No information
Acute fatty liver of pregnancy N/A N/A No information
Adult hypophosphatasia N/A N/A No information
Perinatal hypophosphatasia N/A N/A No information
Hypophosphatemic rickets N/A N/A No information
Homocystinuria N/A N/A at least 1 per 200,000 - 335,000 people are affected by homocystinuria worldwide, Genetics Home Reference website
Homocystinuria syndrome N/A N/A No information
Homocystinuria due to defect in methylation (cbl g) N/A N/A No information
Homocystinuria due to defect in methylation cbl e N/A N/A No information
Homocystinuria due to cystathionine beta-synthase deficiency N/A N/A No information
Galactosemia I N/A N/A 1 per 30,000 liver births are affected by inherited galactosemia, Genetics Home Reference website
Acidemia, methylmalonic N/A N/A estimated 1 per 50,000 - 100,000 suffer from Methylmalonic acidemia, Genetics Home Reference website
Carnosinase deficiency N/A N/A No information
Cholesterol pneumonia N/A N/A No information
Lipodystrophy-HIV related N/A N/A No information
Portuguese type amyloidosis N/A N/A No information
Hereditary amyloidosis N/A N/A No information
Amyloidosis, familial visceral N/A N/A No information
Primary amyloidosis N/A N/A No information
Dialysis-related amyloidosis N/A N/A No information
Amyloidosis N/A N/A less than 3,000 people in the US (Mayo Clinic)
A ?-protein amyloidosis N/A N/A No information
Amyloidosis IX N/A N/A No information
Amyloidosis VI N/A N/A No information
Senile amyloidosis N/A N/A No information
Amyloidosis AL N/A N/A No information
Lichen amyloidosis N/A N/A No information
Amyloidosis, Familial N/A N/A No information
Transthyretin amyloidosis N/A N/A No information
Bronchopulmonary amyloidosis N/A N/A No information
Amyloidosis, Cutaneous bullous N/A N/A No information
Nodular primary localized cutaneous amyloidosis N/A N/A No information
Macular amyloidosis N/A N/A No information
Hepatic amyloidosis with intrahepatic cholestasis N/A N/A No information
Amyloidosis, cerebroarterial, hereditary, Italian type N/A N/A No information
Amyloidosis, Inherited N/A N/A No information
Amyloidosis VII N/A N/A No information
Amyloidosis, familial cutaneous N/A N/A No information
Amyloidosis, oculoleptomeningeal N/A N/A No information
Amyloidosis beta2-microglobulinic N/A N/A No information
Amyloidosis, cerebroarterial, hereditary, Iowa type N/A N/A No information
Primary cutaneous amyloidosis N/A N/A No information
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type N/A N/A No information
Amyloidosis of gingiva and conjunctiva mental retardation N/A N/A No information
Amyloidosis, inflammatory N/A N/A No information
Immunoglobulinic amyloidosis N/A N/A No information
Gastrointestinal amyloidosis N/A N/A No information
Beeturia N/A N/A No information
Niemann-Pick disease N/A N/A No information
Niemann-Pick disease, type A N/A N/A approximately 1 per 40,000 people of Ashkenazi Jewish descent have Niemann-Pick disease type A, Genetics Home Reference website
Niemann-Pick disease, type D N/A N/A No information
Niemann-Pick disease, type C1 N/A N/A No information
Niemann-Pick disease, type C2 N/A N/A approximately 1 per 150,000 people have Niemann-Pick disease type C, Genetics Home Reference website
Niemann-Pick disease, type B N/A N/A No information
Hereditary carnitine deficiency myopathy N/A N/A No information
Cutis laxa -- osteoporosis N/A N/A No information
Cutis Laxa with or without Congenital Disorder of Glycosylation N/A N/A No information
Cutis Laxa with Bone Dystrophy N/A N/A No information
Renal Magnesium Wasting -- hypercalciuria -- nephrocalcinosis -- Ocular disorders N/A N/A No information
Renal hypomagnesemia -- hypercalciuria -- nephrocalcinosis N/A N/A No information
Aconitase deficiency N/A N/A No information
Myopathy with Exercise Intolerance, Swedish type N/A N/A No information
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase N/A N/A No information
Myopathy with Lactic Acidosis, Hereditary N/A N/A No information
Lipid storage myopathy N/A N/A No information
Absorptive hypercalciuria syndrome N/A N/A No information
Selective Vitamin B12 malabsorption with Proteinuria N/A N/A No information
Lipoedema N/A N/A No information
Sjogren-Larsson syndrome N/A N/A No information
Hyperglycemic Hyperosmolar Nonketotic Syndrome N/A N/A No information
Osteoporosis -- macrocephaly -- mental retardation -- blindness N/A N/A No information
Calcification of basal ganglia with or without hypocalcemia N/A N/A No information
Dialysis osteomalacia syndrome N/A N/A No information
Beta ketothiolase deficiency N/A N/A 50 - 60 cases of beta-ketothiolase deficiency have been reported worldwide, Genetics Home Reference website
Cardiomyopathy with myopathy due to COX deficency N/A N/A No information
Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay N/A N/A No information
Glycine encephalopathy, atypical mild form N/A N/A No information
Glycine encephalopathy, classical neonatal early-onset form N/A N/A No information
Glycine encephalopathy, transient neontal form N/A N/A No information
Glycine encephalopathy, classical neonatal form N/A N/A No information
Glycine encephalopathy, classical neonatal late-onset form N/A N/A No information
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia N/A N/A No information
Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency N/A N/A No information
Myopathy mitochondrial -- cataract N/A N/A No information
Myopathy with lactic acidosis and sideroblastic anemia N/A N/A No information
Mitochondrial encephalomyopathy -- aminoacidopathy N/A N/A No information
Mitochondrial myopathy -- lactic acidosis N/A N/A No information
Hereditary carnitine deficiency syndrome, myopathic N/A N/A No information
Carnitine palmitoyl transferase II deficiency, myopathic N/A N/A No information
Hyperparathyroidism, neonatal severe primary N/A N/A No information
Renal tubular transport disorders, inborn N/A N/A No information
Renal tubular acidosis, distal N/A N/A No information
Renal tubular acidosis progressive nerve deafness N/A N/A No information
Renal tubular acidosis, distal -- type III N/A N/A No information
Renal tubular acidosis, distal -- type I N/A N/A No information
Renal tubular acidosis, distal, type 4 N/A N/A No information
Renal tubular acidosis, distal, autosomal recessive N/A N/A No information
Neuroaxonal dystrophy -- renal tubular acidosis N/A N/A No information
Renal tubular acidosis, distal, autosomal dominant N/A N/A No information
Histidinuria, renal tubular defect N/A N/A No information
Cholestatic jaundice -renal tubular insufficiency N/A N/A No information
Oncogenic osteomalacia N/A N/A No information
Xanthine oxydase deficiency N/A N/A No information
Ceroid storage disease N/A N/A No information
Benign familial hematuria N/A N/A No information
Pellagra-like syndrome N/A N/A No information
Maple syrup urine disease, type II N/A N/A No information
Maple syrup urine disease, type 2 N/A N/A No information
Maple syrup urine disease, type 3 N/A N/A No information
Maple syrup urine disease, type III N/A N/A No information
Maple syrup urine disease N/A N/A estimated 1 per 385 infants suffer from maple syrup urine disease in the Old Order Mennonite population, Genetics Home Reference website
Maple syrup urine disease, type 1A N/A N/A No information
Mandibuloacral dysplasia with type A lipodystrophy N/A N/A No information
Nonkeratan-sulfate-excreting Morquio syndrome N/A N/A No information
Mandibuloacral dysplasia with type B lipodystrophy N/A N/A No information
Childhood hypophosphatasia N/A N/A No information
Congenital disorder of glycosylation type 1A N/A N/A No information
CDG syndrome (generic term) N/A N/A No information
CDG syndrome type 4 N/A N/A No information
CDG syndrome type 1A N/A N/A No information
CDG syndrome type 1B N/A N/A No information
CDG syndrome type 3 N/A N/A No information
CDG syndrome type Ic N/A N/A No information
Congenital disorder of Glycosylation type Ic N/A N/A No information
CDG syndrome type I N/A N/A No information
Congenital disorder of glycosylation type 1X N/A N/A No information
MGA 4 N/A N/A No information
$2-methylglutaconic aciduria type 3$ N/A N/A 1 per 10,000 newborns from Iraqi Jewish populations suffer from 2-methylglutaconic aciduria type 3, Genetics Home Reference website
$3-methylglutaconic aciduria, type 4$ N/A N/A No information
$3-methylglutaconic aciduria, type 1$ N/A N/A less than 20 cases of 2-methylglutaconic aciduria type 1 have been reported, Genetics Home Reference website
$3 alpha methylglutaconicaciduria, type 3$ N/A N/A No information
$3-methylglutaconic aciduria, type V$ N/A N/A No information
Barth Syndrome N/A N/A 1 per 200,000 male infants suffer from 2-methylglutaconic aciduria type 2, Genetics Home Reference website
Zellweger Syndrome N/A N/A rare
Congenital disorder of glycosylation type X -- leukocyte adhesion deficiency syndrome type II phenotype N/A N/A No information
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency N/A N/A No information
Andrade's syndrome N/A N/A No information
Amyloid cardiopathy N/A N/A No information
Neurodegeneration due to Cerebral Folate Transport Deficiency N/A N/A No information
Apo A-I deficiency N/A N/A No information
Hyperparathyroidism, familial, primary N/A N/A No information
Methionine adenosyltransferase deficiency N/A N/A No information
Pelvic lipomatosis N/A N/A No information
Juvenile osteoporosis N/A N/A No information
Ovarioleukodystrophy N/A N/A No information
Hypoglycemia with deficiency of glycogen synthetase in the liver N/A N/A No information
Phenylketonuria N/A N/A 1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website
Tay-Sachs disease -- adult onset N/A N/A No information
Tay Sachs N/A N/A No information
Tay Sachs Disease N/A N/A No information
Galactosemia N/A N/A No information
Classic galactosemia N/A N/A No information
Galactokinase deficiency N/A N/A No information
Fructosuria N/A N/A No information
Kearns-Sayre Syndrome N/A N/A rare
MELAS N/A N/A No information
Glycogen branching deficiency N/A N/A No information
Glycogen debranching deficiency N/A N/A No information
Lysosomal glycogen storage disease with normal acid maltase activity N/A N/A No information
Glycogenosis, type O N/A N/A No information
Glycogenosis type 8 N/A N/A No information
Glycogenosis, type 0 N/A N/A No information
Glycogenosis type 2 N/A N/A No information
Familial hyperlipoproteinemia type 4 N/A N/A No information
Lipoprotein glomerulopathy N/A N/A No information
Lipodystrophy, familial partial, type 3 (FPLD3) N/A N/A No information
Hypoalphalipoproteinemia, primary N/A N/A No information
Hypoalphalipoproteinemia (generic term) N/A N/A No information
Abetalipoproteinemia N/A N/A only about 100 cases of abetalipoproteinemia reported worldwide, Genetics Home Reference website
Apolipoprotein C 2I deficiency N/A N/A No information
Hyperlipoproteinemia type 3 N/A N/A No information
Hyperlipoproteinemia type 5 N/A N/A No information
Defective apolipoprotein B-100 N/A N/A No information
Lipoprotein disorder N/A N/A No information
Homozygous hypobetalipoproteinemia N/A N/A No information
Butyrylcholinesterase deficiency N/A N/A No information
Citrulline transport defect N/A N/A No information
Inborn branched chain aminoaciduria N/A N/A No information
Atypical lipodystrophy N/A N/A No information
Aromatic amino acid decarboxylase deficiency N/A N/A No information
Cholesteryl ester transfer protein deficiency N/A N/A No information
Carnitine palmitoyl transferase deficiency N/A N/A No information
Carnitine palmitoyl transferase 2 deficiency N/A N/A No information
Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones N/A N/A No information
Cerebrotendinous Xanthomatosus N/A N/A No information
Hyperprolinemia type 2 N/A N/A No information
Hereditary carnitine deficiency N/A N/A No information
Glucosuria N/A N/A No information
Tay-Sachs disease -- juvenile onset N/A N/A No information
Morquio syndrome, type B N/A N/A No information
Morquio syndrome type A N/A N/A No information
Mucopolysaccharidosis type I Scheie syndrome N/A N/A No information
Mucopolysaccharidosis type 2 Hunter syndrome- mild form N/A N/A No information
Mucopolysaccharidosis type 2 Hunter syndrome- severe form N/A N/A No information
Mucopolysaccharidosis type I Hurler-Scheie syndrome N/A N/A about 200 people ("Orphan Products: Hope for People With Rare Diseases", By Carol Rados, FDA Consumer magazine, November-December 2003 Issue)
Mucopolysaccharidosis type I Hurler syndrome N/A N/A No information
Mucopolysaccharidosis type 7 Sly syndrome N/A N/A No information
Pompe disease N/A N/A 1 per 40,000 people suffer from Pompe disease, Genetics Home Reference website
Krabbe disease, atypical, due to saposin A deficiency N/A N/A No information
Gaucher disease -- perinatal lethal form N/A N/A No information
SBCAD deficiency N/A N/A No information
$3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency$ N/A N/A No information
Properdin deficiency, type III N/A N/A No information
Adenosine monophosphate deaminase deficiency N/A N/A No information
Methylmalonic acidemia N/A N/A No information
Hypoprolinemia N/A N/A No information
Aspartylglucosaminidase deficiency N/A N/A No information
Glutamate-cysteine ligase deficiency N/A N/A No information
Primary hyperoxaluria type 2 N/A N/A No information
Primary hyperoxaluria type 1 N/A N/A No information
Methylmalonic aciduria -- homocystinuria N/A N/A No information
Corticosterone Methyloxidase type I Deficiency N/A N/A No information
Phosphoglucomutase deficiency type 1 N/A N/A No information
Muxcle Phosphoglycerate mutase deficiency N/A N/A No information
Medium and long chan 3-hydroxyacyl-coenzyme A dehydrogenase deficiency N/A N/A No information
Biotinidase deficiency, late onset N/A N/A No information
$17-Beta-hydroxysteroid dehydrogenase III deficiency$ N/A N/A No information
$3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of$ N/A N/A No information
$3-Beta-HSD, Deficiency of$ N/A N/A No information
$3-Beta-Hydroxysteroid Dehydrogenase deficiency$ N/A N/A No information
Enolase deficiency N/A N/A No information
Glutaryl-CoA dehydrogenase deficiency N/A N/A No information
N-acetyl-alpha-glucosaminidase sulfamidase deficiency N/A N/A No information
Familial hypertriglyceridemia N/A N/A No information
$3-Hydroxyacyl-CoA Dehydrogenase II Deficiency$ N/A N/A No information
SCHAD deficiency N/A N/A No information
Type 10 17b-hydroxysteroid dehydrogenase deficiency N/A N/A No information
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency N/A N/A No information
Mucopolysaccharidosis Type III N/A N/A No information
Hyperammonemia -- hypoornithinemia -- hypocitrullinemia -- hypoargininemia -- hypoprolinemia N/A N/A No information
Hyperdibasic aminoaciduria type 2 N/A N/A No information
Cytochrome c oxydase deficiency, French-Canadian type N/A N/A No information
NADH CoQ reductase, deficiency of N/A N/A No information
Deficiency of Member 8 Acyl-CoA Dehydrogenace Family N/A N/A No information
Mild citrullinemia N/A N/A No information
Arginninosuccinic acid synthetase deficiency N/A N/A No information
C1esterase deficiency N/A N/A No information
Familial infantile metachromatic leukodystrophy -- late infantile N/A N/A No information
Cytochrome C Oxidase Deficiency N/A N/A No information
Pyridoxamine 5-prime-phosphate oxidase deficiency N/A N/A No information
Phosphoserine aminotransferase deficiency N/A N/A No information
Methylmalonic acidemia -- homocystinuria N/A N/A No information
Properdin deficiency, type II N/A N/A No information
Properdin deficiency N/A N/A No information
Combined oxidative phosphorylation deficiency 5 N/A N/A No information
Triosephosphate isomerase 1 N/A N/A No information
Perinatal-lethal Gaucher disease N/A N/A No information
Carbohydrate deficiency glycoprotein syndrome type II N/A N/A No information
Chondrodysplasia punctata with steroid sulfatase deficiency N/A N/A No information
Obesity due to congenital leptin deficiency N/A N/A No information
Methylmalonicaciduria, vitamin B12 unresponsive, mut 0 N/A N/A No information
Phosphoglucomutase deficiency N/A N/A No information
Methylmalonic acidemia, vitamin B12 responsive N/A N/A No information
Properdin deficiency, type I N/A N/A No information
Lecithin-cholesterol acyltransferase deficiency, LCAT N/A N/A No information
Methylmalonicaciduria, vitamin B12 unresponsive, mut - N/A N/A No information
Serine deficiency N/A N/A No information
Beta-Glutamylcysteine synthetase deficiency N/A N/A No information
Farber's disease N/A N/A No information
Delta-1-pyrroline 5-carboxylate synthetase deficiency N/A N/A No information
Beta-ureidopropionase deficiency N/A N/A No information
$3?-hydroxysteroid dehydrogenase deficiency$ N/A N/A No information
Acidemia, isovaleric N/A N/A No information
Isovaleric Acidemia N/A N/A No information
Acidemia, propionic N/A N/A No information
Antigen-peptide-transporter 2 deficiency N/A N/A No information
Antigen-peptide-transporter deficiency N/A N/A No information
Glutaric Acidemia Type I N/A N/A No information
D-glycericacidemia N/A N/A No information
Organic acidemia N/A N/A No information
Refsum disease with increased pipecolic acidemia N/A N/A No information
Infantile Refsum Disease N/A N/A No information
Tiglic acidemia N/A N/A No information
Succinic acidemia -- lactic acidosis, congenital N/A N/A No information
Succinic acidemia N/A N/A No information
Lactic acidosis, chronic adult form N/A N/A No information
Beta-hydroxybutyric aciduria N/A N/A No information
Folinic acid-responsive seizures N/A N/A No information
Isobutyric aciduria N/A N/A No information
Glutaric aciduria 2 N/A N/A No information
$2-Methylbutyric Aciduria$ N/A N/A No information
Lactic Acidosis, Fatal Infantile N/A N/A No information
Orotic aciduria purines-pyrimidines N/A N/A No information
Argininosuccinic aciduria N/A N/A No information
Ethylmalonic aciduria N/A N/A about 30 cases of ethylmalonic encephalopathy have been reported worldwide, Genetics Home Reference website
Malonic aciduria N/A N/A less than 20 cases of malonic aciduria have been reported, Genetics Home Reference website
Glutaricaciduria I N/A N/A estimated 1 per 300 people from the Ojibwa population of Canada suffer from glutaric academia type I, Genetics Home Reference website
Glutaric Aciduria, neonatal form of type II A N/A N/A No information
Dibasic aminoaciduria 2 N/A N/A No information
$2-Hydroxyglutaricaciduria$ N/A N/A No information
Orotic aciduria hereditary N/A N/A No information
$3-Hydroxyisobutyric aciduria$ N/A N/A No information
Fumaric aciduria N/A N/A No information
Dibasic aminoaciduria type 1 N/A N/A No information
Infantile sialic acid storage disorder N/A N/A No information
Arginine-glycine amidinotransferase deficiency N/A N/A No information
Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency N/A N/A No information
Glutaricaciduria type 3 N/A N/A No information
$4-hydroxyphenylacetic aciduria$ N/A N/A No information
Caspase-8 deficiency N/A N/A No information
Hypothyroidism due to iodide transport defect N/A N/A No information
Glutamine deficiency, congenital N/A N/A No information
Glycosylphosphatidylinositol deficiency N/A N/A No information
Creatine deficiency, X-linked N/A N/A No information
Acetyl-coa acetyltransferase 2 deficiency N/A N/A No information
Aminoacylase 1 deficiency N/A N/A No information
Cortisone reductase deficiency N/A N/A No information
CD3 deficiency N/A N/A No information
HMG CoA synthetase deficiency N/A N/A No information
Hydroxyacyl-coa dehydrogenase, type 2, deficiency N/A N/A No information
Thyroid hormone plasma membrane transport defect N/A N/A No information
SSADH deficiency (succinic semialdehyde dehydrogenase deficiency) N/A N/A No information
Pyruvate kinase deficiency, liver type N/A N/A No information
Hypercholesterolemia, autosomal dominant N/A N/A No information
Hyperphenilalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency N/A N/A No information
Peroxisomal bifunctional enzyme deficiency N/A N/A No information
Trihydroxycholestanoylcoa oxidase isolated deficiency N/A N/A No information
Hypercholesterolemia due to LDL receptor deficiency N/A N/A No information
Pyruvate dehydrogenase phosphatase deficiency N/A N/A No information
Phenol sulfotransferase deficiency N/A N/A No information
Phosphoribosylpyrophosphate synthetase deficiency N/A N/A No information
Multiple carboxylase deficiency, propionic acidemia N/A N/A No information
Lipoamide dehydrogenase deficiency N/A N/A No information
Enolase deficiency type 3 N/A N/A No information
Coenzyme Q cytochrome c reductase deficiency of N/A N/A No information
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency N/A N/A No information
GTP cyclohydrolase deficiency N/A N/A No information
Glycine synthase deficiency N/A N/A No information
Dopamine beta-hydroxylase deficiency N/A N/A No information
Alpha-N-acetylgalactosaminidase deficiency, Type II N/A N/A No information
Lactic acidosis congenital infantile N/A N/A No information
Aromatase deficiency N/A N/A No information
Dehydratase deficiency N/A N/A No information
Glyceraldehyde-3-phosphate dehydrogenase deficiency N/A N/A No information
NADH cytochrome B5 reductase deficiency N/A N/A No information
Pseudoarylsulfatase A deficiency N/A N/A No information
Succinyl-CoA acetoacetate transferase deficiency N/A N/A No information
Alpha-N-acetylgalactosaminidase deficiency, Type III N/A N/A No information
Glycine synthase deficiency, type 2 N/A N/A No information
Glycine synthase deficiency, type 1 N/A N/A No information
Thiolase deficiency N/A N/A No information
Pyruvate carboxylase deficiency N/A N/A estimated 1 per 250,000 births are affected by pyruvate carboxylase deficiency, Genetics Home Reference website
Isovaleric academia N/A N/A 1 per 250,000 births are affected by isovaleric academia in the US, Genetics Home Reference website
Propionic academia N/A N/A estimated 1 per 100,000 live births suffer from propionic academia in the US, Genetics Home Reference website
Adenosine deaminase deficiency N/A N/A No information
Guanidinoacetate methyltransferase deficiency N/A N/A No information
Adenylosuccinate lyase deficiency N/A N/A No information
Alpha-ketoglutarate dehydrogenase deficiency N/A N/A No information
Gamma aminobutyric acid transaminase deficiency N/A N/A No information
Aldolase A deficiency N/A N/A No information
$3 alpha methylcrotonyl-coa carboxylase 2 deficiency$ N/A N/A No information
$3 alpha methylcrotonyl-Coa carboxylase 1 deficiency$ N/A N/A No information
Hyperhomocysteinemia N/A N/A No information
$18-Hydroxylase deficiency$ N/A N/A No information
Sulfite oxidase deficiency N/A N/A No information
Glucocorticoid resistance N/A N/A No information
ACTH resistance N/A N/A No information
Glutamate decarboxylase deficiency N/A N/A No information
Methylmalonic acidemia, synthesis defect of AdoCbl and MeCbl N/A N/A No information
Purine nucleoside phosphorylase deficiency N/A N/A No information
Fructose-1,6-bisphosphatase deficiency, hereditary N/A N/A No information
Methylmalonicacidemia with homocystinuria, cbl D N/A N/A No information
Pyruvate decarboxylase deficiency N/A N/A No information
Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency N/A N/A No information
Glucosephosphate isomerase deficiency N/A N/A No information
Xanthine oxidase deficiency type II N/A N/A No information
Orotidylic decarboxylase deficiency N/A N/A No information
Myeloperoxidase deficiency N/A N/A No information
Molybdenum, cofactor deficiency, inherited N/A N/A No information
Methylmalonic acidemia, methylmalonyl CoA racemase deficiency N/A N/A No information
Prolidase deficiency N/A N/A No information
Hyperlysinemia, persistent N/A N/A No information
Citrullinemia I, later-onset N/A N/A No information
Valinemia N/A N/A No information
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency N/A N/A estimated 1 per 62,000 people suffer from long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in Finland, Genetics Home Reference website
Thiopurine-s-methyltransferase deficiency N/A N/A No information
Methylene tetrahydrofolate reductase deficiency N/A N/A No information
Oroticaciduria 1 N/A N/A No information
Adenine phosphoribosyltransferase deficiency N/A N/A No information
Periodic hyperlysinemia N/A N/A No information
Muscle phosphoglycerate kinase deficiency N/A N/A No information
Xanthine oxidase deficiency type I N/A N/A No information
Dihydropyrimidine dehydrogenase deficiency N/A N/A No information
Properdin deficiency, X-linked N/A N/A No information
Gamma-cystathionase deficiency N/A N/A No information
Xanthinuria N/A N/A No information
VLCAD deficiency N/A N/A No information
Carnitine palmitoyl transferase 1 deficiency N/A N/A less than 50 people suffer from Jervell and Lange-Nielsen syndrome worldwide, Genetics Home Reference website
Fructose-1-phosphate aldolase deficiency, hereditary N/A N/A No information
Arginase deficiency N/A N/A estimated 1 per 300,000 - 1,000,000 people suffer from arginase deficiency, Genetics Home Reference website
Hereditary carnitine deficiency syndrome, systemic N/A N/A No information
Pyruvate carboxylase deficiency, Group C N/A N/A No information
Triglyceride storage disease with impaired long-chain fatty acid oxidation N/A N/A No information
Pyruvate carboxylase deficiency, Group B N/A N/A No information
Pyruvate carboxylase deficiency, Group A N/A N/A No information
$5-alpha-Oxoprolinase deficiency$ N/A N/A No information
Carnitine palmitoyl transferase II deficiency, lethal neonatal form N/A N/A the lethal neonatal form of carnitine palitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
Hemochromatosis approx 1 in 272 or 0.37% or 1 million people in USA more than 1 million Americans (CDC); 5 per 1000 in Caucasians (NIDDK); 1-in-200 to 1-in-300 more than 1 million Americans (CDC); 5 per 1000 in Caucasians (NIDDK); 1-in-200 to 1-in-300
Hematochromatosis N/A N/A No information
Hemochromatosis type 2 N/A N/A No information
Hemochromatosis type 1 N/A N/A 1 million people suffer from hemochromatosis type 1 in the US, Genetics Home Reference website
Neonatal hemochromatosis N/A N/A No information
Hemochromatosis type 3 N/A N/A No information
Hemochromatosis type 4 N/A N/A No information
ACAD9 deficiency N/A N/A No information
ACAD8 deficiency N/A N/A No information
Lactate dehydrogenase deficiency N/A N/A No information
Glutathione synthetase deficiency, severe N/A N/A No information
Pyruvate dehydrogenase deficiency N/A N/A No information
Glutaricaciduria 2B N/A N/A No information
Argininosuccinase lyase deficiency, late onset N/A N/A No information
Glutathione synthetase deficiency, intermediate N/A N/A No information
Hyperprolinemia type II N/A N/A No information
Holocarboxylase synthetase deficiency N/A N/A estimated 1 per 87,000 people are affected by holocarboxylase synthetase deficiency, Genetics Home Reference website
Fucosidosis type II N/A N/A No information
Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency N/A N/A No information
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome N/A N/A estimated less than 100 people have been reportd with ornithine translocase deficiency worldwide, Genetics Home Reference website
Glutathione synthetase deficiency, mild N/A N/A No information
Hereditary carnitine deficiency syndrome N/A N/A No information
Tyrosinemia N/A N/A No information
Congenital disorder of glycosylation type 1E N/A N/A No information
Myoadenylate deaminase deficiency N/A N/A No information
Carnitine-acylcarnitine translocase deficiency N/A N/A about 30 cases of carnitine-acylcarnitine translocase deficiency have been confirmed, Genetics Home Reference website
Citrullinemia II N/A N/A 1 per 100,000 - 230,000 people have citrullinemia II in Japan , Genetics Home Reference website
$3-methylcrotonyl-CoA carboxylase deficiency$ N/A N/A estimated 1 per 50,000 people suffer from 3-methylcrotonyl-CoA carboxylase deficiency, Genetics Home Reference website
Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type N/A N/A the infantile hepatocardiomusucular form of carnitine palmitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
$4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency$ N/A N/A No information
Carbamoyl-phosphate synthase 1 deficiency N/A N/A estimated 1 per 800,000 newborns suffer from carbamoyl phosphate synthetase I deficiency in Japan, Genetics Home Reference website
Biotinidase deficiency N/A N/A about 1 per 60,000 newborns suffer from profound or partial biotinidase deficiency, Genetics Home Reference website
Acid phosphatase deficiency N/A N/A No information
Galactosemia III N/A N/A No information
$17-20 desmolase deficiency$ N/A N/A No information
Tyrosinemia, type III N/A N/A only a few cases of tyrosinemia type III have been reported, Genetics Home Reference website
Hyperprolinemia type I N/A N/A No information
N-acetyl glutamate synthetase deficiency N/A N/A only a few cases of N-acetylglutamate synthase deficiency have been reported worldwide, Genetics Home Reference website
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency N/A N/A No information
Carnitine transporter deficiency N/A N/A 1 per 40,000 newborns suffer from primary carnitine deficiency in Japan, Genetics Home Reference website
Ornithine transcarbamylase (OTC) Deficiency N/A N/A estimated 1 per 80,000 people suffer fro ornithine transcarbamylase deficiency, Genetics Home Reference website
Glutathionuria N/A N/A No information
$2-methylbutyryl-coenzyme A dehydrogenase deficiency$ N/A N/A 1 per 250 - 500 people from Hmong populations in southeast Asia and America suffer from 2-methylbutyryl-coenzyme A dehydrogenase deficiency though many are asymptomatic, Genetics Home Reference website
Citrullinemia I N/A N/A 1 per 57,000 people have citrullinemia I worldwide , Genetics Home Reference website
Argininosuccinase lyase deficiency, neonatal N/A N/A No information
UDP-Galactose-4-epimerase deficiency N/A N/A No information
Urocanase deficiency N/A N/A No information
Mitochondrial trifunctional protein deficiency N/A N/A No information
Krabbe leukodystrophy N/A N/A 1 per 100,000 people are affected by Krabbe disease in the US, Genetics Home Reference website
Mucopolysaccharidosis type 6 N/A N/A No information
Mucopolysaccharidosis type 3 N/A N/A No information
Sucrase-Isomaltase Deficiency N/A N/A No information
Glucose-6-Phosphate Dehydrogenase Deficiency N/A N/A 1 in 10 African-American males suffer from glucose-6-phosphate dehydrogenase deficiency in the US, Genetics Home Reference website
Short-Chain Acyl-CoA Dehydrogenase Deficiency N/A N/A 1 per 40,000 - 100, 000 newborns suffer from short-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website
Long-Chain Acyl-CoA Dehydrogenase Deficiency N/A N/A No information
Tyrosinemia Type I N/A N/A No information
The Methylmalonic Acidemias N/A N/A No information
Gaucher Disease N/A N/A 1 per 50,000 - 100,000 people are affected by Gaucher disease, Genetics Home Reference website
Fabry's Disease N/A N/A rare
Krabbé Disease N/A N/A rare
Metachromatic Leukodystrophy N/A N/A No information
Isobutyryl-coenzyme A dehydrogenase deficiency N/A N/A less than 5 cases of isobutyryl-coenzyme A dehydrogenase deficiency have been reported, Genetics Home Reference website
Adenosine triphosphatase deficiency, anemia due to N/A N/A No information
Phosphoglycerate kinase 1 deficiency N/A N/A No information
Lactate dehydrogenase deficiency type A N/A N/A No information
Lactate dehydrogenase deficiency type C N/A N/A No information
ADP platelet receptor P2Y12, deficiency of N/A N/A No information
Hypobetalipoproteinaemia -- ataxia -- hearing loss N/A N/A No information
Lysinuric protein intolerance N/A N/A No information
Glycoprotein storage disease N/A N/A No information
Electron Transfer Flavoprotein, deficiency of N/A N/A No information
Encephalopathy due to sulphite oxidase deficiency N/A N/A No information
Idiopathic basal ganglia calcification, childhood onset N/A N/A No information
Congenital disorder of glycosylation type 1D N/A N/A No information
Hyperglycinemia N/A N/A No information
Hypophosphatemia, Familial N/A N/A No information
Hypophosphatemia N/A N/A No information
Congenital disorder of glycosylation type 2B N/A N/A No information
Congenital disorder of glycosylation type 1C N/A N/A No information
Congenital Disorder of Glycosylation, Type 1n N/A N/A No information
Congenital Disorder of Glycosylation, Type 1o N/A N/A No information
Congenital disorder of glycosylation type 2A N/A N/A No information
Congenital disorder of glycosylation type 1B N/A N/A No information
PEPCK 1 deficiency N/A N/A No information
PEPCK 2 deficiency N/A N/A No information
PEPCK Deficiency N/A N/A No information
Congenital disorder of glycosylation type X -- Bombay blood group phenotype N/A N/A No information
Congenital disorder of glycosylation, type In N/A N/A No information
Cystinuria -- lysinuria N/A N/A No information
Xanthic urolithiasis N/A N/A No information
Familial hypertryptophanemia N/A N/A No information
Hereditary hyperuricemia N/A N/A No information
Hyperornithinemia N/A N/A No information
Hyperpipecolatemia N/A N/A No information
Glutaric aciduria type II N/A N/A No information
Hyperimidodipeptiduria N/A N/A No information
Sphingolipidosis N/A N/A No information
Mevalonic aciduria N/A N/A No information
Hypocalciuric hypercalcemia, familial, type 2 N/A N/A No information
Hypocalciuric hypercalcemia, familial, type 1 N/A N/A No information
Hypocalciuric hypercalcemia, familial, type 3 N/A N/A No information
Vitamin D resistant rickets N/A N/A No information
Tumor lysis syndrome N/A N/A No information
Tumoral calcinosis N/A N/A No information
Hypocalciuric hypercalcemia, familial N/A N/A No information
Primary lipodystrophies N/A N/A No information
Hypertryptophanemia N/A N/A No information
Hyperchylomicronemia N/A N/A No information
Hyperprolinaemia type I N/A N/A No information
Hemolytic anaemia due to adenylate kinase deficiency N/A N/A No information
Hemolytic anemia due to adenylate kinase deficiency N/A N/A No information
Dyslipidemia N/A N/A No information
Histidinemia N/A N/A No information
Carnosinemia N/A N/A No information
Maternal hyperphenylalaninemia N/A N/A No information
Familial hyperchylomicronemia N/A N/A 1 per 1 million suffer from familial lipoprotein lipase deficiency worldwide, Genetics Home Reference website
Hepatorenal tyrosinemia N/A N/A 1 per 1,846 people from the Saguenay-La St. Jean region of Quebec suffer from tyrosinemia type 1, Genetics Home Reference website
Non-ketotic hyperglycinemia N/A N/A No information
Hereditary non-spherocytic hemolytic anemia N/A N/A No information
Oculocutaneous tyrosinemia N/A N/A 1 per 250,000 people suffer from tyrosinemia type 2, Genetics Home Reference website
Sarcosinemia N/A N/A No information
Hyperglycerolemia, infantile form N/A N/A No information
Hyperglycerolemia, adult form N/A N/A No information
Hyperglycerolemia N/A N/A No information
Hyperglycerolemia, juvenile form N/A N/A No information
Refsum disease, infantile form N/A N/A No information
Sialidosis type II N/A N/A No information
Sialidosis type II, congenital N/A N/A No information
Sialidosis type II, juvenile N/A N/A No information
Sialidosis type I N/A N/A No information
Sialidosis type II, infantile N/A N/A No information
Sialidosis type 2 N/A N/A No information
Sialidosis type 1 N/A N/A No information
Sialidosis type 1 and 3 N/A N/A No information
Abdominal obesity metabolic syndrome N/A N/A No information
Combined hyperlipidemia, familial N/A N/A No information
Sitosterolemia N/A N/A No information
Aceruloplasminemia N/A N/A No information
Hypoglycemia, leucine-induced N/A N/A No information
Hyperphenylalaninemia with primapterinuria N/A N/A No information
Congenital analbuminemia N/A N/A No information
Acatalasemia N/A N/A No information
Familial dysalbuminemic hyperthyroxinemia N/A N/A No information
Obesity due to prohormone convertase-I deficiency N/A N/A No information
Hyperostosis-hyperphosphatemia syndrome N/A N/A No information
Hypomagnesemia with normocalciuria N/A N/A No information
Saccharopinuria N/A N/A No information
Aspartylglycosaminuria N/A N/A No information
Renal glycosuria N/A N/A No information
Homocytsinuria due to defect in methylation cbl e N/A N/A No information
Phenylketonuria type 2 N/A N/A No information
Sialuria syndrome N/A N/A No information
Hydroxykynureninuria N/A N/A No information
Hypercalciuria, childhood idiopathic N/A N/A No information
Iminoglycinuria N/A N/A No information
Sialuria, French type N/A N/A No information
Methylmalonic aciduria -- microcephaly -- cataract N/A N/A No information
Inborn renal aminoaciduria N/A N/A No information
Pentosuria N/A N/A No information
Mauriac syndrome N/A N/A No information
Renal glucosuria N/A N/A No information
Seizures -- intellectual deficit due to hydroxylysinuria N/A N/A No information
Hypotonia-cystinuria syndrome N/A N/A No information
Sialuria, Finnish type N/A N/A No information
Aminoacidopathies N/A N/A No information
Congenital hepatic porphyria N/A N/A No information
Porphyria Cutanea Tarda N/A N/A No information
Porphyria Cutanea Tarda -- sporadic N/A N/A No information
Porphyria Cutanea Tarda -- familial N/A N/A No information
Porphyria N/A N/A No information
Erythropoietic Protoporphyria N/A N/A No information
Variegate porphyria N/A N/A approximately 3 per 1,000 white South Africans suffer from variegate porphyria, Genetics Home Reference website
Acute intermittent porphyria N/A N/A No information
Porphyria, Ala-D N/A N/A No information
Protoporphyria erythropoietic N/A N/A No information
Porphyria cutanea tarda, familial type N/A N/A 1-2 per 100,000 people are affected by porphyria cutanea tarda, Genetics Home Reference website
Porphyria, congenital erythropoietic N/A N/A No information
Neoplastic porphyria tarda N/A N/A No information
Porphyria, hereditary coproporphyria N/A N/A No information
Protoporphyria N/A N/A No information
Porphyria cutanea tarda, sporadic type N/A N/A No information
Dementia, familial British N/A N/A No information
Isolated Growth Hormone Deficiency, Type IB N/A N/A No information
Gingival fibromatosis and growth hormone deficiency N/A N/A No information
Growth Hormone Receptor Deficiency N/A N/A No information
Growth Hormone Deficiency N/A N/A No information
Milk-Alkali syndrome N/A N/A No information
Burnett's milk drinker's syndrome N/A N/A No information
Milk poisoning N/A N/A No information
Adrenal Hyperplasia, Congenital (General) N/A N/A No information
Attenuated congenital adrenal hyperplasia N/A N/A No information
Non Classic Congenital Adrenal Hyperplasia N/A N/A No information
Lipoid congenital adrenal hyperplasia N/A N/A No information
Congenital adrenal hyperplasia -- non-classical form N/A N/A nonclassical 21-hydroxylase deficiency occurs in an estimated 1 in 100 people, Genetics Home Reference
Congenital adrenal hyperplasia -- simple virilizing form in males N/A N/A No information
Leukodystrophy, pseudometachromatic N/A N/A No information
Adrenoleukodystrophy, autosomal, neonatal form N/A N/A No information
Canavan leukodystrophy N/A N/A No information
Leukodystrophy with oligodontia N/A N/A No information
Dermatoleukodystrophy N/A N/A No information
Van Bogaert-Scherer-Epstein Disease N/A N/A No information
Van Bogaert's disease N/A N/A No information
Van Bogaert disease N/A N/A No information
Nyssen-Van Bogaert syndrome N/A N/A No information
Toni-Fanconi syndrome type 1 N/A N/A No information
Pulmonary haemosiderosis, primary N/A N/A No information
Armani-Ebstein nephropathy N/A N/A No information
Cystinosis, ocular nonnephropathic N/A N/A No information
Nephropathic cystinosis N/A N/A No information
Collagen type III glomerulopathy N/A N/A No information
Renal rickets N/A N/A No information
Pseudohypoaldosteronism type 1, autosomal dominant N/A N/A No information
Pseudohypoaldosteronism type 1, autosomal recessive N/A N/A No information
Congenital Diarrhea, Secretory Sodium, Syndromic, 3 N/A N/A No information
Congenital Diarrhea, Secretory Sodium, 3 N/A N/A No information
Congenital chloride diarrhea N/A N/A No information
Syndromic diarrhea N/A N/A No information
Juvenile Paget's Disease N/A N/A No information
Neurodegeneration With Brain Iron Accumulation 2 N/A N/A No information
Mitochondrial neurogastrointestinal encephalopathy syndrome N/A N/A No information
Plasmalogenes synthesis deficiency isolated N/A N/A No information
Mixed sclerosing bone dystrophy N/A N/A No information
Fibrolipomatosis N/A N/A No information
Wolman Disease with Hypolipoproteinemia and Acanthocytosis N/A N/A No information
Leiomyomatosis of oesophagus, congenital cataract and hematuria N/A N/A No information
Congenital brain dysgenesis due to glutamine synthetase deficiency N/A N/A No information
Cerebral calcifications opalescent teeth phosphaturia N/A N/A No information
Basal cell nevus anodontia abnormal bone mineralization N/A N/A No information
Mitochondrial diseases of nuclear origin N/A N/A No information
Pancreatic lipomatosis and duodenal stenosis N/A N/A No information
Lawrence-Seuo syndrome N/A N/A No information
Arena synddrome N/A N/A No information
Beradinelli-Seip congenital lipodystrophy N/A N/A No information
Encephalopathy due to GLUT1 deficiency N/A N/A No information
Axial osteomalacia N/A N/A No information
Wolfram Syndrome 2 N/A N/A No information
Wolfram Syndrome, Mitochondrial form N/A N/A No information
DIDMOAD Syndrome, Mitochondrial form N/A N/A No information
Lipodystrophy, familial partial, due to AKT2 mutations N/A N/A No information
Peroxisomal Biogenesis Disorders N/A N/A No information
Peroxisome biogenesis disorders N/A N/A No information
Peroxisomal defects N/A N/A No information
Liver disease -- retinitis pigmentosa -- polyneuropathy -- epilepsy N/A N/A No information
Hereditary primary Fanconi disease N/A N/A No information
Fanconi syndrome N/A N/A No information
Achalasia -- Addisonianism -- Alacrimia syndrome N/A N/A No information
Glucose transport defect, blood-brain barrier N/A N/A No information
Laron Dwarfism N/A N/A No information
Laron Type Pituitary Dwarfism 1 N/A N/A No information
Laron Pituitary Dwarfism N/A N/A No information
Laron-type Dwarfism Phenotypic Syndrome N/A N/A No information
Laron-type dwarfism N/A N/A No information
Laron syndrome type 1 N/A N/A No information
Laron syndrome type 2 N/A N/A No information
Laron Syndrome N/A N/A No information
Amyloid Neuropathies N/A N/A No information
Cerebral Amyloid Angiopathy, Familial N/A N/A No information
Amyloid angiopathy N/A N/A No information
Amyloid cardiopathy, familial N/A N/A No information
Familial amyloid polyneuropathy N/A N/A No information
Inborn amino acid metabolism disorder N/A N/A No information
Achalasia -- addisonianism -- alacrima syndrome N/A N/A No information
Camptodactyly -- taurinuria N/A N/A No information
Insulin-resistant acanthosis nigricans, type A N/A N/A No information
Insulin-resistance syndrome, type A N/A N/A No information
Growth delay due to insulin-like growth factor I resistance N/A N/A No information
Insulin-resistance type B N/A N/A No information
Resistance to LH (luteinizing hormone) N/A N/A No information
Epidermal nevus -- vitamin D resistant rickets N/A N/A No information
Inborn urea cycle disorder N/A N/A No information
Muscle phosphoglycerate mutase deficiency N/A N/A No information
Hanhart syndrome type II N/A N/A No information
Hanhart syndrome type IV N/A N/A No information
Hanhart Syndrome N/A N/A No information
Hanhart syndrome type I N/A N/A No information
Chylomicron Retention Disease N/A N/A No information
Fahr's Syndrome N/A N/A rare
Menkes Disease N/A N/A estimated 1 per 100,000 people suffer Menkes syndrome, Genetics Home Reference website
Hypokalemic periodic paralysis N/A N/A 1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
Hyperkalemic periodic paralysis N/A N/A 1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
Periodic Paralyses N/A N/A No information
Asparatate aminotransferase elevation N/A N/A No information
Paget disease juvenile type N/A N/A No information
Juvenile Paget disease N/A N/A No information
Paget's disease, type 1 N/A N/A No information
Paget's disease, type 4 N/A N/A No information
Glucose-galactose malabsorption N/A N/A No information
Pseudoxanthoma elasticum, recessive form N/A N/A No information
Hyperosmolar hyperglycemic nonketotic syndrome N/A N/A No information
Fucosidosis type 1 N/A N/A No information
Leigh syndrome N/A N/A No information
Xanthomatosis cerebrotendinous N/A N/A No information
Xanthoma N/A N/A No information
Hyperparathyroidism, primary N/A N/A No information
Hyperbilirubinemia transient, familial, neonatal N/A N/A No information
Free sialic Acid storage disease N/A N/A No information
Lipodystrophy, familial partial, type 1 (FPLD1) N/A N/A No information
Supernumerary teeth and steroid dehydrogenase deficiency N/A N/A No information
Immunodeficiency due to selective anti-polysaccharide antibody deficiency N/A N/A No information
Mitochondrial diseases, clinically indefinite N/A N/A No information
Cephalothoracic progressive lipodystrophy N/A N/A No information
Pseudoaldosteronism N/A N/A No information
Pseudohyperaldosteronism N/A N/A No information
Senior-Loken syndrome 5 N/A N/A No information
Senior-Loken syndrome 6 N/A N/A No information
Senior-Loken Syndrome N/A N/A No information
Senior-Loken syndrome 4 N/A N/A No information
Senior-Loken syndrome 3 N/A N/A No information
Senior-Loken syndrome 1 N/A N/A No information
Monoamine oxidase A deficiency N/A N/A No information
N-acetyl-alpha-D-galactosaminidase N/A N/A No information
Microcephaly, Amish type N/A N/A No information
Infantile idiopathic hypercalciuria, congenital myopia, macular coloboma N/A N/A No information
Hypercalciuria macular coloboma N/A N/A No information
Arachnodactyly -- ataxia -- cataract -- aminoaciduria -- mental retardation N/A N/A No information
Disorder of Cornification 12 (Neutral Lipid Storage Type) N/A N/A No information
DOC 12 (Neutral Lipid Storage Type) N/A N/A No information
Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures N/A N/A No information
Encephalopathy, familial, with neuroserpin inclusion bodies N/A N/A No information
Anemic -- hematuria syndrome N/A N/A No information
Sucrase-isomaltose malabsorption, congenital N/A N/A No information
Sucrase-isomaltase malabsorption, congenital N/A N/A No information
Neuroferritinopathy N/A N/A No information
Neuroferritinopathy (adult-onset basal ganglia disease) N/A N/A No information
Basal Ganglia Disease, Adult-Onset N/A N/A No information
Rieger anomaly -- partial lipodystrophy N/A N/A No information
SHORT Syndrome N/A N/A No information
Allison atrophy N/A N/A No information
Gram's syndrome N/A N/A No information
Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency N/A N/A No information
Growth delay due to insulin-like growth factor I deficiency N/A N/A No information
Multiple endocrine abnormalities -- adenylyl cyclase dysfunction N/A N/A No information
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency N/A N/A No information
Basal ganglia disease, biotin-responsive N/A N/A No information
Osteoporosis, severe -- shortened long bones -- white sclerae N/A N/A No information
Corticosteroid-binding globulin deficiency N/A N/A No information
Eccentrochondrodysplasia N/A N/A No information
Obesity due to pro-opiomelanocortin Deficiency N/A N/A No information
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency N/A N/A No information
Leigh syndrome, Saguenay-Lac-St. Jean type N/A N/A No information
Congenital sucrose-isomaltose malabsorption N/A N/A No information
Schindler disease N/A N/A No information
Schindler disease, type 1 N/A N/A No information
Schindler disease, type 3 N/A N/A No information
Sandhoff Disease N/A N/A rare
Sturge-Weber Syndrome N/A N/A No information
Hemolytic jaundice N/A N/A No information
Calcification N/A N/A No information
Familial Articular Chondrocalcinosis N/A N/A No information
Infantile hypophosphatasia N/A N/A No information
Lesch-Nyhan syndrome N/A N/A 1 per 380,000 people are affected by Lesch-Nyhan syndrome worldwide, Genetics Home Reference website
Tetany N/A N/A No information
Gilbert's Syndrome N/A N/A No information
Fructose intolerance N/A N/A No information
Tangier disease N/A N/A about 50 cases of Tangier disease have been diagnosed worldwide, Genetics Home Reference website
Osteopaenia -- myopia -- hearing loss -- intellectual deficit -- facial dysmorphism N/A N/A No information
Polyglucosan body disease, adult N/A N/A No information
Tetrahydrobiopterin deficiencies N/A N/A No information
Total lipodystrophy N/A N/A No information
Adult Polyglucosan Body Disease N/A N/A No information
Kuf Disease N/A N/A No information
Fibrodysplasia Ossificans Progressiva N/A N/A No information
Dubin-Johnson Syndrome N/A N/A No information
Kernicterus N/A N/A No information
Tetrahydrobiopterin Deficiency N/A N/A 30% of infants born with high phenylalanine levels have tetrahydrobiopterin deficiency in China, Genetics Home Reference website
Alpha 1-Antitrypsin Deficiency N/A N/A 1 per 5,000 - 7,000 people suffer from alpha-1 antitrypsin deficiency in North America, Genetics Home Reference website
Blue Diaper Syndrome N/A N/A No information
Smith-Lemli-Opitz Syndrome N/A N/A estimated 1 per 20,000 - 40,000 newborns suffer from Smith-Lemli-Opitz syndrome, Genetics Home Reference website
Adiposis Dolorosa N/A N/A No information
Cystinosis N/A N/A 1 per 26,000 newborns suffer from cystinosis in the Brittany province in France, Genetics Home Reference website
Hypophosphatasia N/A N/A No information
Hermansky-Pudlak Syndrome N/A N/A No information
Burnett's syndrome N/A N/A No information
Lawrence-Seip syndrome N/A N/A No information
Borjeson Syndrome N/A N/A No information
Pantothenate kinase-associated neurodegeneration N/A N/A estimated 1-3 per 1 million people are affected by Hallervorden-Spatz disease worldwide, Genetics Home Reference website
Biber-Haab-Dimmer dystrophy N/A N/A No information
Saguenay-Lac Saint Jean -- COX deficiency N/A N/A No information
Rathburn disease N/A N/A No information
Leucinosis N/A N/A No information
Limited cutaneous systemic sclerosis N/A N/A No information
Madelung's disease N/A N/A No information
Dunnigan syndrome N/A N/A No information
Goldberg syndrome N/A N/A No information
Haas-Robinson syndrome N/A N/A No information
MC4R deficiency N/A N/A No information
Salvioli syndrome N/A N/A No information
Zellweger-like syndrome, without peroxisomal anomalies N/A N/A No information
Singh-Williams-McAlister, syndrome N/A N/A No information
Baker-Winegrad disease N/A N/A No information
Haferkamp syndrome N/A N/A No information
HOTS N/A N/A No information
Leschke syndrome N/A N/A No information
Lubarsch-Pick syndrome N/A N/A No information
Fish-eye disease N/A N/A No information
Finnish lethal neonatal metabolic syndrome N/A N/A No information
Kallikrein hypertension N/A N/A No information
Lipogranulomatosis N/A N/A No information
Hunter-Macpherson syndrome N/A N/A No information
Crystal deposit disease N/A N/A No information
Alpha-mannosidosis type II N/A N/A No information
Alpha-mannosidosis, adult-onset form N/A N/A No information
Choroid plexus calcification with mental retardation N/A N/A No information
Aguecheek disease N/A N/A No information
Bamberger albuminuria (obsolete term) N/A N/A No information
Barraquer-Simons syndrome N/A N/A No information
Boyd-Stearns syndrome N/A N/A No information
Fanconi-Albertini-Zellweger syndrome N/A N/A No information
Nguyen syndrome N/A N/A No information
Myoglobinuria recurrent N/A N/A No information
Panostotic fibrous dysplasia N/A N/A No information
Plasmalogens synthesis deficiency isolated N/A N/A No information
Plasminogen activitor inhibitor type 1 deficiency, congenital N/A N/A No information
Antisynthetase syndrome N/A N/A No information
Petit-Fryns syndrome N/A N/A No information
Cormier Rustin Munnich syndrome N/A N/A No information
Lactate dehydrogenase deficiency type B N/A N/A No information
Rambaud-Galian syndrome N/A N/A No information
Steroid dehydrogenase deficiency -- dental anomalies N/A N/A No information
Arena syndrome N/A N/A No information
Mental retardation -- hip luxation -- G6PD variant N/A N/A No information
Tracheobronchopathia osteoplastica N/A N/A No information
Peptidic growth factors deficiency N/A N/A No information
Deal-Barratt-Dillon syndrome N/A N/A No information
Lathosterolosis N/A N/A No information
Short stature -- hyperkaliemia -- acidosis N/A N/A No information
Lipidosis with triglyceride storage disease N/A N/A No information
Synovial osteochondromatosis N/A N/A No information
Manz syndrome N/A N/A No information
Congenital partial lipodystrophy N/A N/A No information
Simell-Takki syndrome N/A N/A No information
Arakawa syndrome 1 N/A N/A No information
Pseudohermaphroditism male with gynecomastia N/A N/A No information
Adams Nance syndrome N/A N/A No information
Myoglobinuria N/A N/A No information
Bhaskar-Jagannathan syndrome N/A N/A No information
Chondrocalcinosis familial articular N/A N/A No information
Baraitser Brett Piesowicz syndrome N/A N/A No information
Roch-Leri mesosomatous lipomatosis N/A N/A No information
Stimmler syndrome N/A N/A No information
Smith-Lemli-Opitz syndrome, type 2 N/A N/A No information
Arakawa's syndrome 2 N/A N/A No information
Lutz-Richner-Landolt syndrome N/A N/A No information
Osteoporosis-pseudoglioma syndrome N/A N/A No information
Albers-Schonberg disease -- Adult benign dominant form N/A N/A No information
Oncogenic hypophosphatemic osteomalacia N/A N/A No information
Di Mauro-Hartlage syndrome N/A N/A No information
Odontohypophosphatasia N/A N/A No information
Myositis ossificans N/A N/A estimated 1 per 2 million people are affected by fibrodysplasia ossificans progressiva, Genetics Home Reference website
Acquired total lipodystrophy N/A N/A No information
Sulfatidosis juvenile, Austin type N/A N/A No information
Chondrocalcinosis N/A N/A No information
Leigh syndrome, French Canadian type N/A N/A No information
Dunningan syndrome N/A N/A No information
Oxalosis, type I N/A N/A estimated 1 per 60,000 - 120,000 births are affected by primary hyperoxaluria, type I, Genetics Home Reference website
Muckle-Wells syndrome N/A N/A No information
Lucey Driscoll syndrome N/A N/A No information
Rotor syndrome N/A N/A No information
Broad beta disease N/A N/A No information
Gaucher-like disease N/A N/A only a few cases of Gaucher-like disease have been reported worldwide, Genetics Home Reference website
Weinstein Kliman Scully syndrome N/A N/A No information
Wolman disease N/A N/A No information
Wohlwill-Andrade syndrome N/A N/A No information
Hooft disease N/A N/A No information
Takahara syndrome N/A N/A No information
Albers-Schonberg disease -- intermediate form N/A N/A No information
Beta-mannosidosis N/A N/A No information
Norum disease N/A N/A No information
Albers-Schonberg disease -- malignant recessive form N/A N/A No information
Rabson-Mendenhall syndrome N/A N/A No information
Jensen syndrome N/A N/A No information
Meretoja syndrome N/A N/A No information
Homocarnosinosis N/A N/A No information
Male pseudohermaphroditism, incomplete hereditary (type 1) N/A N/A No information
Spranger syndrome N/A N/A No information
Kelley-Seegmiller syndrome N/A N/A No information
Mannosidosis, alpha B lysosomal N/A N/A No information
Encephalo cranio cutaneous lipomatosis N/A N/A No information
Pycnodysostosis N/A N/A No information
I cell disease N/A N/A No information
Van Goethem syndrome N/A N/A No information
Van Buchem disease type 2 N/A N/A No information
Kanzaki disease N/A N/A No information
Pseudocholinesterase deficiency N/A N/A No information
MSBD syndrome N/A N/A No information
Oxalosis N/A N/A No information
Pseudophosphatasia N/A N/A No information
Hermansky-Pudlak syndrome type 2 N/A N/A No information
Dobriner syndrome N/A N/A No information
Wolman syndrome N/A N/A No information
Maternally Inherited Leigh Syndrome N/A N/A No information
Lipoid proteinosis of Urbach and Wiethe N/A N/A No information
Oxalosis, Type II N/A N/A No information
Intermediate cystinosis N/A N/A No information

Types of Metabolic disorders

For more information about types of Metabolic disorders, refer to our section on types of Metabolic disorders. See also more information on death information for Metabolic disorders.

 

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