Inborn mitochondrial metabolism disorder

Part of

Sub-types of Inborn mitochondrial metabolism disorder

• Mitochondrial oxidative phosphorylation disorder 3 trials · 58 incl. sub-types
  48 sub-types

  • Leber hereditary optic neuropathy 18 trials Sub-types →
  • Mitochondrial DNA depletion syndrome 3 trials · 11 incl. sub-types Sub-types →
  • Leigh syndrome 9 trials Sub-types →
  • Kearns-Sayre syndrome 5 trials
  • Maternally-inherited diabetes and deafness 5 trials
  • Mitochondrial respiratory chain complex deficiency 4 trials · 5 incl. sub-types Sub-types →
  • Deafness, aminoglycoside-induced 4 trials
  • NARP syndrome 3 trials
  • Autosomal dominant optic atrophy, classic form 3 trials
  • Coenzyme Q10 deficiency 3 trials Sub-types →
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 3 trials
  • Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
  • Leber plus disease 1 trial · 2 incl. sub-types Sub-types →
  • Ataxia neuropathy spectrum 2 trials Sub-types →
  • Pontocerebellar hypoplasia type 6 2 trials
  • Hereditary spastic paraplegia 7 1 trial
  • Charcot-Marie-Tooth disease recessive intermediate D 0 trials
  • Charcot-Marie-Tooth disease type 4K 0 trials
  • FASTKD2-related infantile mitochondrial encephalomyopathy 0 trials
  • Perrault syndrome 0 trials Sub-types →
  • Zellweger-like syndrome without peroxisomal anomalies 0 trials
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 trials
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 0 trials Sub-types →
  • Autosomal dominant mitochondrial myopathy with exercise intolerance 0 trials
  • Autosomal dominant optic atrophy and peripheral neuropathy 0 trials
  • Autosomal recessive optic atrophy, OPA7 type 0 trials
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 trials
  • Chronic diarrhea with villous atrophy 0 trials
  • Combined oxidative phosphorylation deficiency 0 trials Sub-types →
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
  • Encephalopathy due to mitochondrial and peroxisomal fission defect 0 trials Sub-types →
  • Fatal infantile encephalocardiomyopathy 0 trials Sub-types →
  • Hereditary spastic paraplegia 55 0 trials
  • Hereditary spastic paraplegia 77 0 trials
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 trials
  • Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 0 trials
  • Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 0 trials
  • Maternally-inherited mitochondrial dystonia 0 trials
  • Maternally-inherited progressive external ophthalmoplegia 0 trials
  • Mitochondrial DNA maintenance syndrome 0 trials
  • Mitochondrial non-syndromic sensorineural hearing loss 0 trials Sub-types →
  • Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 0 trials
  • Optic atrophy 3 0 trials
  • Periodic paralysis with later-onset distal motor neuropathy 0 trials
  • Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 0 trials
  • Spastic ataxia 3 0 trials
  • Spastic ataxia 4 0 trials
  • Spinocerebellar ataxia type 28 0 trials
• Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types
  24 sub-types

  • Mitochondrial encephalomyopathy 3 trials · 15 incl. sub-types Sub-types →
  • Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types Sub-types →
  • Barth syndrome 5 trials
  • Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
  • Mitochondrial trifunctional protein deficiency 3 trials Sub-types →
  • Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
  • Adenosine monophosphate deaminase deficiency 1 trial
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
  • COX deficiency, benign infantile mitochondrial myopathy 0 trials
  • X-linked recessive mitochondrial myopathy 0 trials
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 0 trials Sub-types →
  • Autosomal dominant mitochondrial myopathy with exercise intolerance 0 trials
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
  • Fatal infantile encephalocardiomyopathy 0 trials Sub-types →
  • Lethal infantile mitochondrial myopathy 0 trials
  • Maternally-inherited progressive external ophthalmoplegia 0 trials
  • Mitochondrial complex I deficiency, nuclear type 1 0 trials
  • Mitochondrial complex II deficiency, nuclear type 0 trials Sub-types →
  • Mitochondrial myopathy with a defect in mitochondrial-protein transport 0 trials
  • Mitochondrial myopathy with diabetes 0 trials
  • Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 0 trials
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0 trials
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 trials
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 trials
• Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types
  7 sub-types

  • Pyruvate dehydrogenase E1-alpha deficiency 2 trials
  • Pyruvate dehydrogenase E3 deficiency 1 trial
  • Lipoic acid synthetase deficiency 0 trials
  • Pyruvate dehydrogenase E1-beta deficiency 0 trials
  • Pyruvate dehydrogenase E2 deficiency 0 trials
  • Pyruvate dehydrogenase E3-binding protein deficiency 0 trials
  • Pyruvate dehydrogenase phosphatase deficiency 0 trials
• Histiocytoid cardiomyopathy 3 trials
  1 sub-type

  • Cardiac lipidosis, familial 0 trials
• Fumaric aciduria 2 trials
• OPA1-related optic atrophy with or without extraocular features 1 trial
  1 sub-type

  • Behr syndrome 0 trials
• Multiple acyl-CoA dehydrogenase deficiency 1 trial
  5 sub-types

  • Glutaric acidemia IIa 0 trials
  • Glutaric acidemia IIb 0 trials
  • Glutaric acidemia IIc 0 trials
  • Multiple acyl-CoA dehydrogenase deficiency, mild type 0 trials
  • Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 0 trials
• Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
  6 sub-types

  • Pyruvate dehydrogenase E3 deficiency 1 trial
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
  • Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
  • Lipoic acid synthetase deficiency 0 trials
  • Lipoyl transferase 1 deficiency 0 trials
  • Spasticity-ataxia-gait anomalies syndrome 0 trials
• 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
• HSD10 mitochondrial disease 0 trials
  3 sub-types

  • HSD10 disease, atypical type 0 trials
  • HSD10 disease, infantile type 0 trials
  • HSD10 disease, neonatal type 0 trials
• Hypotonia-cystinuria syndrome 0 trials
  1 sub-type

  • Atypical hypotonia-cystinuria syndrome 0 trials
• Mitochondrial membrane transport disorder 0 trials
  2 sub-types

  • Mitochondrial protein import disorder 0 trials
  • Mitochondrial substrate carrier disorder 0 trials Sub-types →
• Mitochondrial pyruvate carrier deficiency 0 trials
• Oxoglutaricaciduria 0 trials