combined oxidative phosphorylation deficiency 22

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.

Signs and symptoms

Microcephaly
Decreased activity of mitochondrial complex III
Hypotonia
Decreased activity of mitochondrial complex I
Depletion of mitochondrial DNA in muscle tissue
Decreased activity of mitochondrial complex IV
Hyperalaninemia
Encephalopathy
Seizure
Pulmonary arterial hypertension

Also known as: COXPD22