ornithine transcarbamylase deficiency

(redirected from Ornithine transcarbamoylase 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.

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 ?
For fluorescence PCR analysis of the 9-bp deletion, we prepared two PCR primers (9Del-AS and 9Del-AS; Table 1), and three templates; two were the reverse transcription products of the total RNA isolated from the liver of a patient with CPS1 deficiency and a patient with ornithine transcarbamoylase deficiency (as a control); a plasmid containing the homozygous 9-bp deletion mutation was used.

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