/combined oxidative phosphorylation deficiency

/fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Rare Disease

MONDO:0012512

Also Known As

TSFM combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency caused by mutation in TSFMcombined oxidative phosphorylation deficiency type 3fatal mitochondrial disease due to COXPD3COXPD3combined oxidative phosphorylation deficiency 3concentric cardiomyopathy, hypotonia, and lactic acidosisencephalomyopathy, respiratory failure, and lactic acidosis

Definition

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.