Mitochondrial complex III deficiency
Mitochondrial complex III deficiency
Definition
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Also known as isolated coenzyme Q-cytochrome C reductase deficiency, isolated CoQ-cytochrome C reductase deficiency, isolated mitochondrial respiratory chain complex III deficiency, isolated ubiquinone-cytochrome C reductase deficiency, mitochondrial respiratory chain complex III deficiency — per MONDO