United Mitochondrial Disease Foundation

Synonyms: Alpers disease, Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, Alpers progressive infantile poliodystrophy, Poliodystrophia cerebri progressiva, Progressive cerebral poliodystrophy, Diffuse cerebral degeneration in infancy, Alpers-Huttenlocher syndrome, Neuronal degeneration of childhood with liver disease, progressive, PNDC, Infantile poliodystrophy

Synonyms: BTHS, 3-methylglutaconic aciduria type II, MGA type II, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, TAZ defect

Synonyms: Progressive external ophthalmoplegia, CPEO

Synonyms: Mitochondrial complex IV deficiency, Complex 4 mitochondrial respiratory chain deficiency, Deficiency of mitochondrial respiratory chain complex4, COX deficiency, Complex IV deficiency

Synonyms: Deficiencia de 3-hidroxiacil-CoA deshidrogenasa de cadena larga, LCHADD

Synonyms: Glutaric acidemia type 2, Glutaric acidemia 2, Glutaric aciduria 2, GA 2, Ethylmalonic-adipicaciduria, Multiple Acyl-CoA dehydrogenase deficiency, EMA, MADD

Synonyms: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-Hydroxyisobutyryl-CoA hydrolase deficiency, Beta-hydroxyisobutyryl-CoA deacylase deficiency, Methacrylic aciduria, Methacrylic acid toxicity, Valine metabolic defect

Synonyms: KSS, Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, Oculocraniosomatic syndrome, Ophthalmoplegia plus syndrome, Mitochondrial cytopathy, Ophthalmoplegia, progressive external, with ragged red fibers, Chronic progressive external ophthalmoplegia with myopathy, CPEO with myopathy, CPEO with ragged red fibers

Synonyms: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency, Long-chain 3-OH acyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency type 1, 3-hydroxyacyl-CoA dehydrogenase long chain deficiency

Synonyms: Leber’s disease, Optic atrophy, Leber type, Leber optic atrophy, LHON

Synonyms: LHON and dystonia, Leber optic atrophy and dystonia, LDYT, Marsden syndrome, Dystonia familial, with visual failure and striatal lucencies, Leber's hereditary optic neuropathy with dystonia

Synonyms: LS, Subacute necrotizing encephalopathy, SNE, Necrotizing encephalopathy infantile subacute of Leigh, Leigh's necrotizing encephalopathy, Leigh's disease, Infantile subacute necrotizing encephalopathy, Leigh disease

Synonyms: MCAD deficiency, Acyl-CoA dehydrogenase medium chain deficiency of, MCADH deficiency, ACADM deficiency, MCADD, Medium chain acyl CoA dehydrogenase deficiency, Medium-chain acyl-CoA dehydrogenase deficiency

Synonyms: Complex 1 mitochondrial respiratory chain deficiency, NADH coenzyme Q reductase deficiency, Mitochondrial NADH dehydrogenase component of complex I, deficiency of, NADH:Q(1) Oxidoreductase deficiency, Isolated mitochondrial respiratory chain complex I deficiency, Isolated NADH-coenzyme Q reductase deficiency, Isolated NADH-CoQ reductase deficiency, Isolated NADH-ubiquinone reductase deficiency, Isolated complex I deficiency

Synonyms: Complex 2 mitochondrial respiratory chain deficiency, Succinate CoQ reductase deficiency, Mitochondrial respiratory chain complex II deficiency, Succinate dehydrogenase deficiency

Synonyms: Complex 3 mitochondrial respiratory chain deficiency

Synonyms: Complex 5 mitochondrial respiratory chain deficiency

Synonyms: MILS, Leigh disease, maternally inherited, Subacute necrotizing encephalomyelopathy maternally inherited, Maternally inherited Leigh syndrome

Synonyms: MELAS, MELAS syndrome

Synonyms: MNGIE, Myoneurogastrointestinal encephalopathy syndrome, MNGIE syndrome, Oculogastrointestinal muscular dystrophy, OGIMD, Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction, POLIP, Thymidine phosphorylase deficiency

Synonyms: Fatal multiple mitochondrial dysfunction syndrome, Fatal multiple mitochondrial dysfunctions syndrome

Synonyms: Merrf syndrome, MERRF, Myoclonic epilepsy associated with ragged red fibers, Fukuhara syndrome, Myoencephalopathy ragged-red fiber disease

Synonyms: NARP syndrome, NARP

Synonyms: Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly), Pearson's marrow/pancreas syndrome, Pearson's syndrome, Pearson marrow-pancreas syndrome

Synonyms: Systemic primary carnitine deficiency, Carnitine uptake defect, Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine, Carnitine plasma-membrane transporter deficiency, Carnitine transporter deficiency, Carnitine uptake deficiency

Synonyms: PC deficiency, Ataxia with lactic acidosis 2, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to pyruvate carboxylase deficiency

Synonyms: Pyruvate dehydrogenase deficiency, PDHC, PDH deficiency, PDC deficiency

Synonyms: SCAD deficiency, ACADS deficiency, SCADH deficiency, Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency, Short-chain acyl-coenzyme A dehydrogenase deficiency

Synonyms: 3-MGCA type IV (3-MGCA-4) (formerly), TMEM70-related mitochondrial encephalo-cardio-myopathy, Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency

Synonyms: Very long-chain acyl-CoA dehydrogenase deficiency, VLCADD