Conditions / Genetic
mitochondrial complex V (ATP synthase) deficiency nuclear type 3
info · Genetic
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.
Signs and symptoms
- Hypertrophic cardiomyopathy
- Decreased activity of mitochondrial ATP synthase complex
- Peripheral neuropathy
- Intellectual disability
- Lactic acidosis
- 3-Methylglutaconic aciduria
Also known as: MC5DN3