combined oxidative phosphorylation deficiency 5

info · Genetic

A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.

Signs and symptoms

Generalized hypotonia
Hyperammonemia
Lactic acidosis
Fetal skin edema
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial complex I
Hypertrophic cardiomyopathy
Decreased activity of mitochondrial complex IV
Seizure

Also known as: COXPD5; hypotonia with lactic acidemia and hyperammonemia