ornithine transcarbamylase deficiency


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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.

ornithine transcarbamylase deficiency

The most common urea cycle enzyme deficiency disorder inherited as an autosomal recessive trait, characterized by the absence of ornithine transcarbamylase (an enzyme in the urea cycle), which results in the excessive buildup of ammonia in the bloodstream. The disease is typically diagnosed in infancy and occurs in less than 1 in 8000 births.
See also: deficiency
References in periodicals archive ?
Natural history of symptomatic partial ornithine transcarbamylase deficiency.
One of the last protocols that the RAC approved, before its meetings were halted in 1995, was for a genetic disease called Ornithine Transcarbamylase Deficiency (OTC), which is a rare urea-cycle disorder.
Although presentation of ornithine transcarbamylase deficiency in a male teenager is quite rare, this case highlights the importance of keeping IEMs in the differential diagnosis.
Melanie, 24, and her partner, Arfon, hope the transplant will cure William of his potentially fatal disease ornithine transcarbamylase deficiency (OTC), which prevents the liver from breaking down protein.