combined oxidative phosphorylation deficiency 42

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.

Signs and symptoms

Hearing impairment
Anemia
Cardiomyopathy
Lactic acidosis
Elevated circulating creatine kinase activity
Decreased liver function
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex I
Decreased circulating cortisol level
Decreased activity of mitochondrial complex IV

Also known as: COXPD42