What is Congenital metabolic disorders?

What is Congenital metabolic disorders?

• Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.

Congenital metabolic disorders: Introduction

Types of Congenital metabolic disorders:

Types of Congenital metabolic disorders:

• Heterozygous Familial Hypercholesterolemia
• Familial Apolipoprotein A-I and C-III Deficiency
• Familial Apolipoprotein A-I, C-III, A-IV Deficiency
• Hereditary Hemochromatosis
• Hypercholesterolemia, autosomal recessive
• Homozygous Familial Hypercholesterolemia
• Congenital disorder of glycosylation type 1F
• Congenital disorder of glycosylation type 1G
• Congenital disorder of glycosylation type 1H
• Congenital disorder of glycosylation type 1I
• Congenital disorder of glycosylation type 1J
• Congenital disorder of glycosylation type 1K
• Congenital disorder of glycosylation type 1L
• Congenital disorder of glycosylation type 1M
• Congenital disorder of glycosylation type 1/IIX
• Congenital disorder of glycosylation type 2C
• Congenital disorder of glycosylation type 2D
• Congenital disorder of glycosylation type 2E
• Congenital disorder of glycosylation type 2G
• Congenital disorder of glycosylation type 2H
• Congenital disorder of glycosylation type IIH
• Congenital disorder of glycosylation type 2F
• Congenital Disorders of Glycosylation
• Batten Disease
• Ceroid lipofuscinosis, neuronal 3, Juvenile
• Ceroid lipofuscinosis, neuronal 4
• Ceroid lipofuscinosis, neuronal 6, late infantile
• Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant
• Ceroid lipofuscinosis, neuronal 5
• Ceroid lipofuscinosis, neuronal 7
• Ceroid lipofuscinosis, neuronal 8
• Ceroid lipofuscinosis, neuronal 9
• Ceroid lipofuscinosis, neuronal 10
• Ceroid lipofuscinosis, neuronal
• Ceroid lipofuscinosis, neuronal 1, infantile
• Ceroid lipofuscinosis, neuronal 2, late infantile type
• Santavuori Disease
• Bielschowsky disease
• Primary Emphysema
• Homozygotic Alpha 1 antitrypsin Defeciency
• Mucopolysaccharidoses
• Mucopolysaccharidosis II
• Mucopolysaccharidosis III
• Mucopolysaccharidosis IV
• Mucopolysaccharidosis VI
• Mucopolysaccharidosis VII
• Hurler syndrome
• Scheie syndrome
• Morquio syndrome
• MPS-IV (Morquio Disease)
• MPS 3 C
• MPS 3 D
• Mucopolysaccharidosis, type 9
• Propionic Acidemia
• Alkaptonuria
• Methylmalonate Semialdehyde Dehydrogenase Deficiency
• Alpha-Mannosidosis
• The Primary Hyperoxalurias
• Fucosidosis
• Familial Lipoprotein Lipase Deficiency
• The Congenital Lactic Acidoses
• Succinic Semialdehyde Dehydrogenase Deficiency
• Urea Cycle Disorders
• Trimethylaminuria
• Sialidosis
• Multiple Sulfatase Deficiency
• Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency
• Farber Disease
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency
• Carnitine Deficiency Syndromes
• Aspartylglucosaminuria
• Human Cytochrome Oxidase Deficiency
• Carnitine Palmitoyl Transferase II Deficiency
• Type V Glycogen Storage Disease
• McArdle disease
• Forbes disease
• Andersen disease
• Type IV Glycogen Storage Disease
• Type VII Glycogen Storage Disease
• Type III Glycogen Storage Disease
• Glutathione Synthetase Deficiency
• Type I Glycogen Storage Disease
• Von Gierke disease IA
• Von Gierke disease IB
• Muscular phosphorylase kinase deficiency
• Von Gierke Disease
• Fanconi-Bickel syndrome
• Type 0 Glycogen Storage Disease
• Glutaric Acidemia Type II
• Glut-1 Deficiency Syndrome
• Hartnup Disease
• Cystinuria
• HMG-CoA lyase deficiency
• L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency
• Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency
• LADHSC deficiency
• M/SCHAD deficiency
• SCHAD Deficiency -- formerly
• HADH deficiency
• 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency
• Dicarboxylicaminoaciduria
• Hyperlipoproteinemia type 2
• Phosphoribosylpyrophosphate synthetase superactivity
• Phosphoenolpyruvate carboxykinase (PEPCK) deficiency
• Thiopurine S methyltranferase deficiency
• Very Long Chain Acyl CoA Dehydrogenase Deficiency -- Early onset
• Very Long Chain Acyl CoA Dehydrogenase Deficiency -- intermediate
• Very Long Chain Acyl CoA Dehydrogenase Deficiency -- adult-onset
• Congenital Disorders of Glycosylation Type Ia
• Ornithine Transcarbamylase Deficiency
• Citrullinemia
• Glycogen Storage Disease Type I
• 6-pyruvoyl-tetrahydropterin synthase deficiency
• Complex 5 mitochondrial respiratory chain deficiency
• Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy
• Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type
• Complex 4 mitochondrial respiratory chain deficiency
• Complex 1 mitochondrial respiratory chain deficiency
• Complex 2 mitochondrial respiratory chain deficiency
• Berardinelli-Seip congenital lipodystrophy
• Berardinelli-Seip congenital lipodystrophy, type 1
• Berardinelli-Seip congenital lipodystrophy, type 2
• Maple syrup urine disease, type 1B
• Glucose-6-phosphate deficiency
• Mucolipidosis IV
• Mucolipidosis type 4
• Mucolipidosis type 3 A
• Mucolipidosis III
• Mucolipidoses
• Mucolipidosis type 1
• Glutaricaciduria type 1
• Glutaric aciduria 1
• Acyl-CoA dehydrogenase, very long chain, deficiency of
• Acyl-CoA dehydrogenase, short chain, deficiency of
• Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
• Glycogen storage disease type 2B -- formerly
• Pseudoglycogenosis II
• Glycogen Storage Disease IIb -- formerly
• GSD2B -- formerly
• GSD IIB -- formerly
• Glycogen Storage Disease IXb
• Glycogen Storage Disease IXa1
• Glycogen Storage Disease IXc
• Type II Glycogen Storage Disease
• Glycogen storage diseases
• Glycogen storage disease type 2
• Glycogen storage disease type 6A, due to phosphorylase kinase deficiency
• Sanfilippo syndrome type A
• Sanfilippo syndrome type B
• Glycogen storage disease type 6
• Glycogen storage disease type 7
• Glycogen storage disease type 1C
• Glycogen storage disease type 2B
• Glycogen storage disease type 1D
• Glycogen Storage Disease XIV
• Bartter Syndrome type 4
• Bartter Syndrome type 4A
• Bartter Syndrome type 4B
• Bartter Syndrome
• Bartter's syndrome, antenatal type 1
• Bartters syndrome, antenatal , type 2
• Bartter's syndrome, type 3
• Gaucher disease type 1
• Gaucher disease type 2
• Gaucher disease type 3
• Pyruvate kinase deficiency, muscle type
• Intrinsic factor, congenital deficiency of
• Deafness -- goiter -- stippled epiphyses
• Triose phosphate-isomerase deficiency
• Mental Retardation, Joint Hypermobility With or without Metabolic Abnormalities
• Lipoproteine lipase deficiency
• Familial Dysbetalipoproteinemia
• GM2-gangliosidosis, AB variant
• Familial Lactase Deficiency
• Congenital lactase deficiency
• Grasbeck-Imerslund Disease
• Cobalamin malabsorption, selective, with proteinuria
• Megaloblasti Anemia, 1
• Megaloblastic Anemia, Familial
• Congenital Vitamin B12 Malabsorption
• Familial Selective Vitamin B12 Malabsorption
• Methylmalonic acidemia, cobalamin A deficiency
• Methylmalonic acidemia, Cobalamin B deficiency
• Methylmalonicaciduria with homocystinuria, cobalamin F
• Methylcobalamin deficiency, cbl E complementation type
• Transcobalamin 2 deficiency
• Methylcobalamin deficiency cbl G type
• Defect in synthesis of adenosylcobalamin
• Transcobalamin I deficiency
• Cobalamin R Binder Protein Deficiency
• Cobalamin pseudodeficiency due to transcobalamin deficiency
• Familial Hypercholesterolemia
• Hypercholesterolemia due to arg3500 mutation of Apo B-100
• Hyperinsulinism due to glutamodehydrogenase deficiency
• Hyperinsulinism due to glucokinase deficiency
• Familial hyperlipoproteinemia type 1
• Familial hyperlipoproteinemia type 3
• Hypobetalipoproteinemia, familial
• Familial hyperlipoproteinemia
• Familial HDL deficiency
• Gangliosidosis GM1 type 3
• GM1 gangliosidosis
• Gangliosidosis, generalized GM1 type 2
• Gangliosidosis, generalized GM1 type 3
• Gangliosidosis generalized GM1, type 1
• Neuraminidase deficiency
• Neuraminidase deficiency, type II, juvenile form
• Homocystinuria
• Homocystinuria syndrome
• Homocystinuria due to defect in methylation (cbl g)
• Homocystinuria due to defect in methylation cbl e
• Homocystinuria due to cystathionine beta-synthase deficiency
• Galactosemia I
• Acidemia, methylmalonic
• Carnosinase deficiency
• Niemann-Pick disease
• Niemann-Pick disease, type A
• Niemann-Pick disease, type D
• Niemann-Pick disease, type C1
• Niemann-Pick disease, type C2
• Niemann-Pick disease, type B
• Bile acid synthesis defects
• Bile acid synthesis defects, congenital, 1
• Bile acid synthesis defects, congenital, 2
• Bile acid synthesis defects, congenital, 3
• Bile acid synthesis defects, congenital, 4
• Malabsorption due to bile acid synthesis defects, idiopathic
• Bile acid synthesis defect, congenital, 2
• Bile acid synthesis defect, congenital, 4
• Hereditary carnitine deficiency myopathy
• Acrodermatitis Enteropathica
• Aconitase deficiency
• Myopathy with Exercise Intolerance, Swedish type
• Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase
• Myopathy with Lactic Acidosis, Hereditary
• Cardiomyopathy -- hypogonadism -- metabolic anomalies
• Beta ketothiolase deficiency
• Cardiomyopathy with myopathy due to COX deficency
• Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay
• Glycine encephalopathy, atypical mild form
• Glycine encephalopathy, classical neonatal early-onset form
• Glycine encephalopathy, classical neonatal form
• Glycine encephalopathy, classical neonatal late-onset form
• Hereditary carnitine deficiency syndrome, myopathic
• Carnitine palmitoyl transferase II deficiency, myopathic
• Renal tubular transport disorders, inborn
• Renal tubular acidosis, distal
• Renal tubular acidosis progressive nerve deafness
• Renal tubular acidosis, distal -- type III
• Renal tubular acidosis, distal -- type I
• Renal tubular acidosis, distal, type 4
• Renal tubular acidosis, distal, autosomal recessive
• Neuroaxonal dystrophy -- renal tubular acidosis
• Renal tubular acidosis, distal, autosomal dominant
• Histidinuria, renal tubular defect
• Cholestatic jaundice -renal tubular insufficiency
• Xanthine oxydase deficiency
• Ceroid storage disease
• Maple syrup urine disease, type II
• Maple syrup urine disease, type 2
• Maple syrup urine disease, type 3
• Maple syrup urine disease, type III
• Maple syrup urine disease
• Maple syrup urine disease, type 1A
• Nonkeratan-sulfate-excreting Morquio syndrome
• Congenital disorder of glycosylation type 1A
• CDG syndrome (generic term)
• CDG syndrome type 4
• CDG syndrome type 1A
• CDG syndrome type 1B
• CDG syndrome type 3
• CDG syndrome type Ic
• Congenital disorder of Glycosylation type Ic
• CDG syndrome type I
• Congenital disorder of glycosylation type 1X
• Zellweger Syndrome
• Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Apo A-I deficiency
• Methionine adenosyltransferase deficiency
• Hypoglycemia with deficiency of glycogen synthetase in the liver
• Purine nucleoside phosphorylase (PNP) deficiency
• Phenylketonuria
• Tay-Sachs disease -- adult onset
• Tay Sachs
• Tay Sachs Disease
• Galactosemia
• Classic galactosemia
• Galactokinase deficiency
• Fructosuria
• Glycogen branching deficiency
• Glycogen debranching deficiency
• Lysosomal glycogen storage disease with normal acid maltase activity
• Glycogenosis, type O
• Glycogenosis type 8
• Glycogenosis, type 0
• Glycogenosis type 2
• Familial hyperlipoproteinemia type 4
• Abetalipoproteinemia
• Apolipoprotein C 2I deficiency
• Hyperlipoproteinemia type 3
• Butyrylcholinesterase deficiency
• Citrulline transport defect
• Inborn branched chain aminoaciduria
• Aromatic amino acid decarboxylase deficiency
• Cholesteryl ester transfer protein deficiency
• Carnitine palmitoyl transferase deficiency
• Carnitine palmitoyl transferase 2 deficiency
• Hyperprolinemia type 2
• Hereditary carnitine deficiency
• Tay-Sachs disease -- juvenile onset
• Morquio syndrome, type B
• Morquio syndrome type A
• Mucopolysaccharidosis type I Scheie syndrome
• Mucopolysaccharidosis type 2 Hunter syndrome- mild form
• Mucopolysaccharidosis type 2 Hunter syndrome- severe form
• Mucopolysaccharidosis type I Hurler-Scheie syndrome
• Mucopolysaccharidosis type I Hurler syndrome
• Mucopolysaccharidosis type 7 Sly syndrome
• Pompe disease
• Krabbe disease, atypical, due to saposin A deficiency
• Gaucher disease -- perinatal lethal form
• SBCAD deficiency
• 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency
• Properdin deficiency, type III
• Adenosine monophosphate deaminase deficiency
• Methylmalonic acidemia
• Hypoprolinemia
• Aspartylglucosaminidase deficiency
• Glutamate-cysteine ligase deficiency
• Primary hyperoxaluria type 2
• Primary hyperoxaluria type 1
• Methylmalonic aciduria -- homocystinuria
• Corticosterone Methyloxidase type I Deficiency
• Phosphoglucomutase deficiency type 1
• Medium and long chan 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Biotinidase deficiency, late onset
• 17-Beta-hydroxysteroid dehydrogenase III deficiency
• 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of
• 3-Beta-HSD, Deficiency of
• 3-Beta-Hydroxysteroid Dehydrogenase deficiency
• Enolase deficiency
• Glutaryl-CoA dehydrogenase deficiency
• N-acetyl-alpha-glucosaminidase sulfamidase deficiency
• 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency
• SCHAD deficiency
• Type 10 17b-hydroxysteroid dehydrogenase deficiency
• Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
• Mucopolysaccharidosis Type III
• Hyperammonemia -- hypoornithinemia -- hypocitrullinemia -- hypoargininemia -- hypoprolinemia
• Hyperdibasic aminoaciduria type 2
• Cytochrome c oxydase deficiency, French-Canadian type
• NADH CoQ reductase, deficiency of
• Deficiency of Member 8 Acyl-CoA Dehydrogenace Family
• Mild citrullinemia
• Arginninosuccinic acid synthetase deficiency
• C1esterase deficiency
• Familial infantile metachromatic leukodystrophy -- late infantile
• Cytochrome C Oxidase Deficiency
• Pyridoxamine 5-prime-phosphate oxidase deficiency
• Phosphoserine aminotransferase deficiency
• Methylmalonic acidemia -- homocystinuria
• Properdin deficiency, type II
• Properdin deficiency
• Combined oxidative phosphorylation deficiency 5
• Triosephosphate isomerase 1
• Perinatal-lethal Gaucher disease
• Carbohydrate deficiency glycoprotein syndrome type II
• Chondrodysplasia punctata with steroid sulfatase deficiency
• Obesity due to congenital leptin deficiency
• Methylmalonicaciduria, vitamin B12 unresponsive, mut 0
• Phosphoglucomutase deficiency
• Methylmalonic acidemia, vitamin B12 responsive
• Properdin deficiency, type I
• Lecithin-cholesterol acyltransferase deficiency, LCAT
• Methylmalonicaciduria, vitamin B12 unresponsive, mut -
• Serine deficiency
• Beta-Glutamylcysteine synthetase deficiency
• Farber's disease
• Delta-1-pyrroline 5-carboxylate synthetase deficiency
• Beta-ureidopropionase deficiency
• 3?-hydroxysteroid dehydrogenase deficiency
• Acidemia, isovaleric
• Isovaleric Acidemia
• Acidemia, propionic
• Antigen-peptide-transporter 2 deficiency
• Antigen-peptide-transporter deficiency
• Glutaric Acidemia Type I
• D-glycericacidemia
• Refsum disease with increased pipecolic acidemia
• Infantile Refsum Disease
• Succinic acidemia -- lactic acidosis, congenital
• Succinic acidemia
• Isobutyric aciduria
• Glutaric aciduria 2
• 2-Methylbutyric Aciduria
• Lactic Acidosis, Fatal Infantile
• Orotic aciduria purines-pyrimidines
• Argininosuccinic aciduria
• Ethylmalonic aciduria
• Malonic aciduria
• Glutaricaciduria I
• Glutaric Aciduria, neonatal form of type II A
• Dibasic aminoaciduria 2
• 2-Hydroxyglutaricaciduria
• Orotic aciduria hereditary
• 3-Hydroxyisobutyric aciduria
• Fumaric aciduria
• Dibasic aminoaciduria type 1
• Infantile sialic acid storage disorder
• Arginine-glycine amidinotransferase deficiency
• Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency
• Glutaricaciduria type 3
• 4-hydroxyphenylacetic aciduria
• Caspase-8 deficiency
• Hypothyroidism due to iodide transport defect
• Glutamine deficiency, congenital
• Glycosylphosphatidylinositol deficiency
• Creatine deficiency, X-linked
• Acetyl-coa acetyltransferase 2 deficiency
• Aminoacylase 1 deficiency
• Cortisone reductase deficiency
• CD3 deficiency
• HMG CoA synthetase deficiency
• Hydroxyacyl-coa dehydrogenase, type 2, deficiency
• Thyroid hormone plasma membrane transport defect
• SSADH deficiency (succinic semialdehyde dehydrogenase deficiency)
• Pyruvate kinase deficiency, liver type
• Hyperphenilalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
• Peroxisomal bifunctional enzyme deficiency
• Trihydroxycholestanoylcoa oxidase isolated deficiency
• Pyruvate dehydrogenase phosphatase deficiency
• Phenol sulfotransferase deficiency
• Phosphoribosylpyrophosphate synthetase deficiency
• Multiple carboxylase deficiency, propionic acidemia
• Lipoamide dehydrogenase deficiency
• Enolase deficiency type 3
• Coenzyme Q cytochrome c reductase deficiency of
• Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
• GTP cyclohydrolase deficiency
• Glycine synthase deficiency
• Dopamine beta-hydroxylase deficiency
• Alpha-N-acetylgalactosaminidase deficiency, Type II
• Lactic acidosis congenital infantile
• Aromatase deficiency
• Dehydratase deficiency
• Glyceraldehyde-3-phosphate dehydrogenase deficiency
• NADH cytochrome B5 reductase deficiency
• Pseudoarylsulfatase A deficiency
• Succinyl-CoA acetoacetate transferase deficiency
• Alpha-N-acetylgalactosaminidase deficiency, Type III
• Glycine synthase deficiency, type 2
• Glycine synthase deficiency, type 1
• Thiolase deficiency
• Pyruvate carboxylase deficiency
• Isovaleric academia
• Propionic academia
• Adenosine deaminase deficiency
• Guanidinoacetate methyltransferase deficiency
• Adenylosuccinate lyase deficiency
• Alpha-ketoglutarate dehydrogenase deficiency
• Gamma aminobutyric acid transaminase deficiency
• Aldolase A deficiency
• 3 alpha methylcrotonyl-coa carboxylase 2 deficiency
• 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
• Hyperhomocysteinemia
• 18-Hydroxylase deficiency
• Sulfite oxidase deficiency
• Glucocorticoid resistance
• ACTH resistance
• Glutamate decarboxylase deficiency
• Methylmalonic acidemia, synthesis defect of AdoCbl and MeCbl
• Purine nucleoside phosphorylase deficiency
• Fructose-1,6-bisphosphatase deficiency, hereditary
• Methylmalonicacidemia with homocystinuria, cbl D
• Pyruvate decarboxylase deficiency
• Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency
• Glucosephosphate isomerase deficiency
• Xanthine oxidase deficiency type II
• Orotidylic decarboxylase deficiency
• Myeloperoxidase deficiency
• Molybdenum, cofactor deficiency, inherited
• Methylmalonic acidemia, methylmalonyl CoA racemase deficiency
• Prolidase deficiency
• Hyperlysinemia, persistent
• Citrullinemia I, later-onset
• Valinemia
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Thiopurine-s-methyltransferase deficiency
• Methylene tetrahydrofolate reductase deficiency
• Oroticaciduria 1
• Adenine phosphoribosyltransferase deficiency
• Periodic hyperlysinemia
• Muscle phosphoglycerate kinase deficiency
• Xanthine oxidase deficiency type I
• Dihydropyrimidine dehydrogenase deficiency
• Properdin deficiency, X-linked
• Gamma-cystathionase deficiency
• Xanthinuria
• VLCAD deficiency
• Carnitine palmitoyl transferase 1 deficiency
• Fructose-1-phosphate aldolase deficiency, hereditary
• Arginase deficiency
• Hereditary carnitine deficiency syndrome, systemic
• Pyruvate carboxylase deficiency, Group C
• Pyruvate carboxylase deficiency, Group B
• Pyruvate carboxylase deficiency, Group A
• 5-alpha-Oxoprolinase deficiency
• Carnitine palmitoyl transferase II deficiency, lethal neonatal form
• Hemochromatosis type 2
• Hemochromatosis type 1
• Neonatal hemochromatosis
• Hemochromatosis type 3
• Hemochromatosis type 4
• ACAD9 deficiency
• ACAD8 deficiency
• Glutathione synthetase deficiency, severe
• Pyruvate dehydrogenase deficiency
• Glutaricaciduria 2B
• Argininosuccinase lyase deficiency, late onset
• Glutathione synthetase deficiency, intermediate
• Hyperprolinemia type II
• Holocarboxylase synthetase deficiency
• Fucosidosis type II
• Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
• Glutathione synthetase deficiency, mild
• Hereditary carnitine deficiency syndrome
• Tyrosinemia
• Congenital disorder of glycosylation type 1E
• Myoadenylate deaminase deficiency
• Carnitine-acylcarnitine translocase deficiency
• Citrullinemia II
• 3-methylcrotonyl-CoA carboxylase deficiency
• Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type
• 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
• Carbamoyl-phosphate synthase 1 deficiency
• Biotinidase deficiency
• Acid phosphatase deficiency
• Galactosemia III
• 17-20 desmolase deficiency
• Tyrosinemia, type III
• Hyperprolinemia type I
• N-acetyl glutamate synthetase deficiency
• Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
• Carnitine transporter deficiency
• Ornithine transcarbamylase (OTC) Deficiency
• Glutathionuria
• 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• Citrullinemia I
• Argininosuccinase lyase deficiency, neonatal
• UDP-Galactose-4-epimerase deficiency
• Urocanase deficiency
• Mitochondrial trifunctional protein deficiency
• Krabbe leukodystrophy
• Mucopolysaccharidosis type 6
• Mucopolysaccharidosis type 3
• Sucrase-Isomaltase Deficiency
• Glucose-6-Phosphate Dehydrogenase Deficiency
• Short-Chain Acyl-CoA Dehydrogenase Deficiency
• Long-Chain Acyl-CoA Dehydrogenase Deficiency
• Tyrosinemia Type I
• The Methylmalonic Acidemias
• Gaucher Disease
• Fabry's Disease
• Krabbé Disease
• Metachromatic Leukodystrophy
• Isobutyryl-coenzyme A dehydrogenase deficiency
• Adenosine triphosphatase deficiency, anemia due to
• ADP platelet receptor P2Y12, deficiency of
• Lysinuric protein intolerance
• Glycoprotein storage disease
• Electron Transfer Flavoprotein, deficiency of
• Encephalopathy due to sulphite oxidase deficiency
• Congenital disorder of glycosylation type 1D
• Hypophosphatemia, Familial
• Congenital disorder of glycosylation type 2B
• Congenital disorder of glycosylation type 1C
• Congenital Disorder of Glycosylation, Type 1n
• Congenital Disorder of Glycosylation, Type 1o
• Congenital disorder of glycosylation type 2A
• Congenital disorder of glycosylation type 1B
• PEPCK 1 deficiency
• PEPCK 2 deficiency
• PEPCK Deficiency
• Congenital disorder of glycosylation type X -- Bombay blood group phenotype
• Familial hypertryptophanemia
• Hereditary hyperuricemia
• Hyperornithinemia
• Hyperpipecolatemia
• Glutaric aciduria type II
• Hyperimidodipeptiduria
• Sphingolipidosis
• Mevalonic aciduria
• Hypocalciuric hypercalcemia, familial, type 2
• Hypocalciuric hypercalcemia, familial, type 1
• Hypocalciuric hypercalcemia, familial, type 3
• Hypocalciuric hypercalcemia, familial
• Familial isolated deficiency of vitamin E
• Hypertryptophanemia
• Hyperprolinaemia type I
• Hemolytic anaemia due to adenylate kinase deficiency
• Hemolytic anemia due to adenylate kinase deficiency
• Histidinemia
• Hepatorenal tyrosinemia
• Non-ketotic hyperglycinemia
• Hereditary non-spherocytic hemolytic anemia
• Oculocutaneous tyrosinemia
• Sarcosinemia
• Hyperglycerolemia, infantile form
• Hyperglycerolemia, adult form
• Hyperglycerolemia
• Hyperglycerolemia, juvenile form
• Refsum disease, infantile form
• Sialidosis type II
• Sialidosis type II, congenital
• Sialidosis type II, juvenile
• Sialidosis type I
• Sialidosis type II, infantile
• Sialidosis type 2
• Sialidosis type 1
• Sialidosis type 1 and 3
• Atransferrinemia
• Sitosterolemia
• Aceruloplasminemia
• Hypoglycemia, leucine-induced
• Hyperphenylalaninemia with primapterinuria
• Congenital analbuminemia
• Acatalasemia
• Anaemia, sideroblastic, X-linked -- ataxia
• Familial dysalbuminemic hyperthyroxinemia
• Obesity due to prohormone convertase-I deficiency
• Saccharopinuria
• Aspartylglycosaminuria
• Homocytsinuria due to defect in methylation cbl e
• Phenylketonuria type 2
• Sialuria syndrome
• Sialuria, French type
• Pentosuria
• Sialuria, Finnish type
• Aminoacidopathies
• Congenital hepatic porphyria
• Porphyria Cutanea Tarda -- familial
• Erythropoietic Protoporphyria
• Variegate porphyria
• Acute intermittent porphyria
• Porphyria, Ala-D
• Protoporphyria erythropoietic
• Porphyria cutanea tarda, familial type
• Porphyria, congenital erythropoietic
• Neoplastic porphyria tarda
• Porphyria, hereditary coproporphyria
• Protoporphyria
• Porphyria cutanea tarda, sporadic type
• Dementia, familial British
• Adrenal Hyperplasia, Congenital (General)
• Attenuated congenital adrenal hyperplasia
• Non Classic Congenital Adrenal Hyperplasia
• Lipoid congenital adrenal hyperplasia
• Congenital adrenal hyperplasia -- non-classical form
• Congenital adrenal hyperplasia -- simple virilizing form in males
• Leukodystrophy, pseudometachromatic
• Adrenoleukodystrophy, autosomal, neonatal form
• Pseudoadrenoleukodystrophy
• Nyssen-Van Bogaert syndrome
• Bantu siderosis
• Cystinosis, ocular nonnephropathic
• Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2
• Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1
• Apparent mineralocorticoid excess
• Motor and cognitive disorder due to sepiapterin reductase deficiency
• Plasmalogenes synthesis deficiency isolated
• Congenital brain dysgenesis due to glutamine synthetase deficiency
• Hyperreninemic Hypoaldosteronism, Familial 2
• Apparent Mineralocorticoid Excess, type 2
• Encephalopathy due to GLUT1 deficiency
• Peroxisomal Biogenesis Disorders
• Peroxisome biogenesis disorders
• Peroxisomal defects
• Liver disease -- retinitis pigmentosa -- polyneuropathy -- epilepsy
• Hereditary primary Fanconi disease
• Achalasia -- Addisonianism -- Alacrimia syndrome
• Laron Dwarfism
• Laron Type Pituitary Dwarfism 1
• Laron Pituitary Dwarfism
• Laron-type Dwarfism Phenotypic Syndrome
• Laron-type dwarfism
• Laron syndrome type 1
• Laron syndrome type 2
• Laron Syndrome
• Complete androgen insensitivity
• Inborn amino acid metabolism disorder
• Achalasia -- addisonianism -- alacrima syndrome
• Inborn urea cycle disorder
• Muscle phosphoglycerate mutase deficiency
• Menkes Disease
• Glucose-galactose malabsorption
• Fucosidosis type 1
• Free sialic Acid storage disease
• Supernumerary teeth and steroid dehydrogenase deficiency
• Crigler-Najjar syndrome, type 1
• Crigler-Najjar syndrome, type 2
• Crigler-Najjar Syndrome
• N-acetyl-alpha-D-galactosaminidase
• Microcephaly, Amish type
• Encephalopathy, familial, with neuroserpin inclusion bodies
• Sucrase-isomaltose malabsorption, congenital
• Sucrase-isomaltase malabsorption, congenital
• Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency
• Hypotonia -- failure to thrive -- microcephaly
• Growth delay due to insulin-like growth factor I deficiency
• Multiple endocrine abnormalities -- adenylyl cyclase dysfunction
• Eccentrochondrodysplasia
• Heckenlively syndrome
• Congenital sucrose-isomaltose malabsorption
• Schindler disease
• Schindler disease, type 1
• Schindler disease, type 3
• Sturge-Weber Syndrome
• Infantile hypophosphatasia
• Lesch-Nyhan syndrome
• Gilbert's Syndrome
• Polyglucosan body disease, adult
• Tetrahydrobiopterin deficiencies
• Adult Polyglucosan Body Disease
• Kuf Disease
• Tetrahydrobiopterin Deficiency
• Alpha 1-Antitrypsin Deficiency
• Blue Diaper Syndrome
• Saguenay-Lac Saint Jean -- COX deficiency
• Leucinosis
• Dunnigan syndrome
• Goldberg syndrome
• Grange syndrome
• Haas-Robinson syndrome
• Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis
• Baker-Winegrad disease
• Finnish lethal neonatal metabolic syndrome
• Alpha-mannosidosis type II
• Alpha-mannosidosis, adult-onset form
• Boyd-Stearns syndrome
• Fanconi-Albertini-Zellweger syndrome
• Plasmalogens synthesis deficiency isolated
• Cormier Rustin Munnich syndrome
• Lactate dehydrogenase deficiency type B
• Steroid dehydrogenase deficiency -- dental anomalies
• Mental retardation -- hip luxation -- G6PD variant
• Peptidic growth factors deficiency
• Lathosterolosis
• Simell-Takki syndrome
• Arakawa syndrome 1
• Pseudohermaphroditism male with gynecomastia
• Smith-Lemli-Opitz syndrome, type 2
• Arakawa's syndrome 2
• Di Mauro-Hartlage syndrome
• Odontohypophosphatasia
• Sulfatidosis juvenile, Austin type
• Chondrocalcinosis
• Leigh syndrome, French Canadian type
• Oxalosis, type I
• Broad beta disease
• Wolman disease
• Takahara syndrome
• Beta-mannosidosis
• Homocarnosinosis
• Male pseudohermaphroditism, incomplete hereditary (type 1)
• Spranger syndrome
• Mannosidosis, alpha B lysosomal
• Pycnodysostosis
• I cell disease
• Kanzaki disease
• Pseudocholinesterase deficiency
• Oxalosis
• Dobriner syndrome
• Wolman syndrome
• Lipoid proteinosis of Urbach and Wiethe
• Oxalosis, Type II
• Intermediate cystinosis
• more types...»

What causes Congenital metabolic disorders?

Causes of Congenital metabolic disorders: see causes of Congenital metabolic disorders

What are the symptoms of Congenital metabolic disorders?

Symptoms of Congenital metabolic disorders: see symptoms of Congenital metabolic disorders

Congenital metabolic disorders: Testing

Diagnostic testing: see tests for Congenital metabolic disorders.

Misdiagnosis: see misdiagnosis and Congenital metabolic disorders.

How is it treated?

Treatments for Congenital metabolic disorders: see treatments for Congenital metabolic disorders

Name and Aliases of Congenital metabolic disorders

Main name of condition: Congenital metabolic disorders

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