Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

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.

Also known as: TSFM combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency caused by mutation in TSFM, combined oxidative phosphorylation deficiency type 3, fatal mitochondrial disease due to COXPD3, COXPD3, combined oxidative phosphorylation deficiency 3, concentric cardiomyopathy, hypotonia, and lactic acidosis, encephalomyopathy, respiratory failure, and lactic acidosis

13 clinical trials for this condition and its sub-types, 0 tagged with Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 itself.