Orphanet: Isolated ATP synthase deficiency

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Isolated ATP synthase deficiency

Disease definition

Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).


Classification level: Disorder
  • Synonym(s):
    • Isolated mitochondrial respiratory chain complex V deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.8
  • ICD-11: 5C53.25
  • OMIM: 604273  614053  615228  618120  618683
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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