combined oxidative phosphorylation defect type 8

Rare Disease

MONDO:0013570

Also Known As

AARS2 combined oxidative phosphorylation deficiencyCOXPD8combined oxidative phosphorylation deficiency caused by mutation in AARS2combined oxidative phosphorylation deficiency type 8cardiomyopathy, hypertrophic mitochondrial, fatal infantilecombined oxidative phosphorylation deficiency 8

Definition

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.