ornithine transcarbamylase deficiency

ornithine transcarbamylase deficiency

An X-D condition due to an absence of ornithine transcarbamylase, an X-linked mitochondrial enzyme expressed in hepatocytes and small intestinal cells–enterocytes Clinical Chronic hyperammonemia, episodic hyperirritability, vomiting, lethargy, protein avoidance, ataxia, coma, delayed growth and development, often mental deterioration caused by a mutation in ornithine transcarbamylase–OTC gene Lab ↓ Arginine, citrulline, urea; during acute hyperammonemic episodes, orotic aciduria is common Prognosis Poor in ♂ who lapse into hyperammonemic coma, or recover with mental retardation and cerebral palsy. See Hyperammonemia.