Conditions / Genetic
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
info · Genetic
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
Signs and symptoms
- Lactic acidosis
- Decreased activity of mitochondrial ATP synthase complex
- Global developmental delay
- Hypertrophic cardiomyopathy
- 3-Methylglutaconic aciduria
- Hypotonia
- Hypospadias
- Encephalopathy
- Long philtrum
- Anteverted nares
Also known as: MC5DN2; neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency