Conditions / Genetic
combined oxidative phosphorylation deficiency 13
info · Genetic
A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1.
Signs and symptoms
- Hyporeflexia
- Axial hypotonia
- Encephalopathy
- Poor head control
- Choreoathetosis
- Dystonia
- Severe muscular hypotonia
- Increased circulating lactate concentration
- Increased CSF lactate
- Decreased nerve conduction velocity
Also known as: COXPD13