combined oxidative phosphorylation deficiency 40

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21.

Signs and symptoms

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

Also known as: COXPD40; QRSL1-related COXPD