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 ?
Ornithine transcarbamylase deficiency in adults has now been reported for multiple cases.
Ornithine transcarbamylase deficiency (OTC) is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle.
ORNITHINE Transcarbamylase Deficiency is part of a urea cycle disorder.
Translate Bio provided an update on its lead clinical candidate, MRT5005, currently in development for the treatment of cystic fibrosis, and on its second product candidate, MRT5201, in development for the treatment of ornithine transcarbamylase deficiency.The initiation of the multiple-dose portion of the Phase 1/2 clinical trial of MRT5005 is an important milestone as it represents the first time that multiple doses of an mRNA therapeutic have been given to patients for the treatment of a genetic disease," said Ronald Renaud, chief executive officer, Translate Bio.
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.