Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
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.
Also known as combined oxidative phosphorylation deficiency caused by mutation in TSFM, combined oxidative phosphorylation deficiency type 3, fatal mitochondrial disease due to COXPD3, TSFM combined oxidative phosphorylation deficiency — per MONDO