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Glossary for Mitochondrial diseases

  • 2-methylglutaconic aciduria type 3:
  • 3 alpha methylglutaconicaciduria, type 3: A rare genetic condition where a gene mutation prevents the production of certain protein which leads to a build-up of an acid (3-methylglutaconic acid) which can have a negative impact on the body. The condition is characterized mainly by damage to the optic nerve.
  • 3-methylglutaconic aciduria, type 1: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
  • 3-methylglutaconic aciduria, type 4: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • 3-methylglutaconic aciduria, type V: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid.
  • All Disease Categories: All major disease categories
  • Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
  • Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.
  • Bizarre medical conditions: Various unusual and unexpected medical disorders
  • Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
  • Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
  • Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. The deficiency generally only affects the muscle tissue
  • Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called enzyme cytochrome C oxidase (COX or Complex IV) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hearty and kidneys as well as the muscles.
  • Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
  • DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Deafness, isolated, due to mitochondrial transmission: Inherited hearing loss that occurs without any other symptoms and is caused by minute changes in mitochondrial DNA.
  • Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
  • Exercise intolerance: inability to exercise excessively
  • Friedreich ataxia: A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain.
  • Friedreich ataxia -- congenital glaucoma: A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder.
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • Heart failure: Slow failure of the heart (cardiac insufficiency).
  • Heart rhythm symptoms: Problems with the rhythm of the heartbeat (arrhythmias)
  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • Leber's hereditary optic atrophy: Rare mitochondrial eye disease.
  • Leigh syndrome: A rare, progressive, neurological disorder characterized by the degeneration of the brain and impaired function of various body organs. The condition is caused by a systemic deficiency of the cytochrome C oxidase enzyme.
  • Leigh syndrome, French Canadian type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
  • Leigh syndrome, Saguenay-Lac-St. Jean type: A rare, progressive, inherited metabolic disorder where a deficiency of the enzyme cytochrome C oxidase affects skeletal muscles, connective tissue, brain and liver.
  • MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
  • MGA 4: MGA (methylglutaconic aciduria) is a rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • Maternally Inherited Leigh Syndrome: A rare condition where Leigh syndrome is inherited from the mother. Leigh syndrome is characterized by degeneration of the brain and impaired function of various organs.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Mitochondrial DNA depletion syndrome: A group of conditions called mitochondrial disorders involving a reduced number of mitochondrial DNA in tissues rather than defective mitochondrial DNA. The disorders generally involve neurological symptoms which can occur during infancy or childhood. Symptoms will vary depending on the specific order involved.
  • Mitochondrial Parkinson's disease: A form of Parkinson's disease that seems to be linked to mitochondrial defects - mitochondria are the energy-producing components of body cells. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
  • Mitochondrial diseases of nuclear origin: A group of mitochondrial disorders of nuclear DNA e.g. Leigh syndrome, OXPHOS disorders and MNGIE syndrome. Symptoms can vary considerable depending on the specific disease which manifests.
  • Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
  • Mitochondrial encephalomyopathy -- aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
  • Mitochondrial myopathy -- lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.
  • Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Mitochondrial trifunctional protein deficiency: A rare genetic condition where the body is unable to convert certain fats to energy. More specifically, there is insufficient levels of a particular enzyme needed to metabolize a type of fat called long-chain fatty acids.
  • Muscle cramps: A condition which is characterized by the uncontrolled contractions of muscles
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Myoclonus epilepsy: A form of epilepsy (brain function disturbance) associated with involuntary muscle twitching (myoclonus)
  • Myopathy mitochondrial -- cataract: A rare disorder characterized by muscle weakness and cataracts.
  • Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay: A rare condition characterized by muscle disease, congenital cataracts, hearing loss and developmental delay.
  • Myositis: One of the underlying causes for muscle weakness/myopathy.
  • Optic atrophy 1: A rare syndrome characterized mainly by progressive dysfunction of the optic nerve which results in vision impairment. Vision impairment ranges from moderate to severe. The eye disorder is caused by a genetic defect on chromosome 3q28-q29.
  • Pearson's anemia: Pearson's anemia is a rare progressive condition characterized by abnormal pancreatic functioning and sideroblastic anemia. Diagnosis usually occurs within the first 7 years of life and death in infancy is common.
  • Progressive external ophthalmoplegia: A rare genetic disorder characterized by progressive paralysis of the eye muscles as well as occasional skeletal muscle involvement.
  • Pyruvate carboxylase deficiency:
  • Pyruvate carboxylase deficiency, Group A: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type A has moderately severe symptoms that usually start during infancy.
  • Pyruvate carboxylase deficiency, Group B: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type B has severe, life-threatening symptoms that can be noticed soon after birth.
  • Pyruvate carboxylase deficiency, Group C: A rare inherited disorder characterized by a deficiency of pyruvate carboxylase which leads to accumulation of lactic acid and other compounds which can have a toxic effect on the nervous system and body organs. Type C is a mild form of the condition.
  • Pyruvate dehydrogenase deficiency: An inherited carbohydrate metabolism disorder where a deficiency of pyruvate dehydrogenase results in metabolic acidosis and mental retardation as well as other neurological symptoms. The condition may be mild or severe. The condition is exacerbated by eating high carbohydrate meals and stress.
  • Riboflavin deficiency: Dietary deficiency of riboflavin (vitamin B2)
  • Stroke: Serious brain event from bleeding or blood clots.
  • Systemic disorders: Any condition that occurs in a system of the body
  • Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
  • Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.

 

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