Isolated ATP synthase deficiency
ORPHA:254913· ICD-10 E88.8
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).
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal