United Mitochondrial Disease Foundation | Genetic and Rare Diseases Information Center (GARD)

Supported Diseases

3-alpha hydroxyacyl-CoA dehydrogenase deficiency

Synonyms: 3-hydroxylacyl-CoA dehydrogenase deficiency, Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency, M/SCHAD, HADH deficiency

Adenosine monophosphate deaminase 1 deficiency

Synonyms: AMP deaminase 1 deficiency, Myoadenylate deaminase deficiency, AMPD1 deficiency, Myopathy due to myoadenylate deaminase deficiency, MMDD, Adenosine monophosphate deaminase deficiency, AMP deaminase deficiency

Alpers syndrome

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

ALS-like syndrome of encephalomyopathy

Barth syndrome

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

Carnitine palmitoyl transferase 1 deficiency

Synonyms: Carnitine palmitoyltransferase 1A deficiency, CPT1A deficiency, Hepatic CPT1, Hepatic carnitine palmitoyltransferase 1 deficiency, L-CPT 1 deficiency, Carnitine palmitoyl transferase IA deficiency, Hepatic carnitine palmitoyl transferase 1 deficiency, Hepatic carnitine palmitoyl transferase I deficiency, L-CPT1 deficiency, L-CPTI deficiency

Carnitine palmitoyltransferase 2 deficiency

Synonyms: Carnitine palmitoyltransferase deficiency type 2, CPT2, Carnitine palmitoyltransferase II (CPT II) deficiency

Carnitine palmitoyltransferase I deficiency , muscle

Synonyms: Carnitine palmitoyl transferase IA deficiency, CPT1A deficiency, Hepatic carnitine palmitoyl transferase 1 deficiency, Hepatic carnitine palmitoyl transferase I deficiency, L-CPT1 deficiency, L-CPTI deficiency, CPT I, MUSCLE, MCCPT1, KIAA1670

Carnitine-acylcarnitine translocase deficiency

Chronic progressive external ophthalmoplegia

Synonyms: Progressive external ophthalmoplegia, CPEO

Coenzyme Q10 deficiency

Synonyms: CoQ10 deficiency, CoQ10 deficiency, primary

Cytochrome c oxidase deficiency

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

Deficiencia de LCHAD

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

Dominant optic atrophy

Synonyms: Autosomal dominant optic atrophy, DOA, ADOA

FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

Synonyms: mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, Encephalomyopathic mitochondrial DNA depletion syndrome-13, MTDPS13, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, FBXL4 Deficiency, BXL4-Related Early-Onset Mitochondrial Encephalopathy

Glutaric acidemia type II

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

Guanidinoacetate methyltransferase deficiency

Synonyms: GAMT deficiency, Cerebral creatine deficiency syndrome 2

HIBCH deficiency

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

Kearns-Sayre syndrome

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

L-arginine:glycine amidinotransferase deficiency

Synonyms: AGAT deficiency, Arginine:glycine amidinotransferase deficiency, Creatine deficiency syndrome due to AGAT deficiency, GATM deficiency

Lactic acidosis congenital infantile

LCAD deficiency

Synonyms: Long-chain acyl-CoA dehydrogenase deficiency, ACADL deficiency

LCHAD deficiency

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

Leber hereditary optic neuropathy

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

Leber hereditary optic neuropathy with dystonia

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

Leigh syndrome

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

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Synonyms: Leukoencephalopathy with brain stem and spinal cord involvement - high lactate, LBSL, Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation, MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

Medium-chain acyl-coenzyme A dehydrogenase deficiency

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

MEPAN syndrome

Synonyms: Mitochondrial enoyl CoA reductase protein-associated neurodegeneration, Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities, DYTOABG, Dystonia 20, Childhood-Onset, DYT29

Mitochondrial complex I 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

Mitochondrial complex II deficiency

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

Mitochondrial complex III deficiency

Synonyms: Complex 3 mitochondrial respiratory chain deficiency

Mitochondrial complex V deficiency

Synonyms: Complex 5 mitochondrial respiratory chain deficiency

Mitochondrial DNA depletion syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Synonyms: Mitochondrial encephalomyopathy aminoacidopathy, Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, Booth-Haworth-Dilling syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome-5

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Synonyms: Deoxyguanosine Kinase Deficiency, DGUOK Deficiency, DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Mitochondrial DNA-associated Leigh syndrome

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

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Synonyms: MELAS, MELAS syndrome

Mitochondrial genetic disorders

Mitochondrial myopathy with lactic acidosis

Synonyms: Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

Mitochondrial neurogastrointestinal encephalopathy syndrome

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

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

Synonyms: Navajo neuropathy, NN, Navajo neurohepatopathy, Mitochondrial DNA depletion syndrome 6, MTDPS6

Multiple mitochondrial dysfunctions syndrome

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

Myoclonic epilepsy with ragged red fibers

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

Neuropathy ataxia retinitis pigmentosa syndrome

Synonyms: NARP syndrome, NARP

Pearson syndrome

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

Pontocerebellar hypoplasia type 6

Synonyms: Encephalopathy fatal infantile with mitochondrial respiratory chain defects

Primary carnitine deficiency

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

Pyruvate carboxylase deficiency

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

Pyruvate dehydrogenase complex deficiency

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

RRM2B-related mitochondrial DNA depletion syndrome

Synonyms: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy, Mitochondrial DNA depletion syndrome 8A, Encephalomyopathic type with renal tubulopathy, mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Sengers syndrome

Synonyms: Cardiomyopathy and cataract, Cataract and cardiomyopathy, cardiomyopathic mitochondrial DNA depletion syndrome 10

Short-chain acyl-CoA dehydrogenase 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

Síndrome de Leigh

TMEM70 defect

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

VLCAD deficiency

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