combined oxidative phosphorylation defect type 9

Rare Disease

MONDO:0013811

Also Known As

COXPD9MRPL3 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency caused by mutation in MRPL3combined oxidative phosphorylation deficiency type 9combined oxidative phosphorylation deficiency 9

Definition

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.