ornithine transcarbamoylase

or·ni·thine car·bam·o·yl·trans·fer·ase

an enzyme catalyzing formation of l-citrulline and orthophosphate from l-ornithine and carbamoyl phosphate; a part of the urea cycle; a deficiency of this enzyme will result in ammonia intoxication and impaired urea formation.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Detection of various Organic acids (OA) and their metabolites is the key to the diagnosis of not only organic acidemias, but through testing of certain metabolites like homogentisic acid, orotic acid and succinyl acetone, a range of conditions like homocystinuria, ornithine transcarbamoylase deficiency, and tyrosinemia Type-12, can be detected on this panel.
It has been shown that normal human brain has very low or no ornithine transcarbamoylase (OTC) activity, thus preventing urea cycle activity [108].
Gene therapy met a particularly precipitous defeat with the much-publicized death of 18-year-old Jesse Gelsinger, a gene therapy patient who suffered from ornithine transcarbamoylase deficiency.
Ornithine transcarbamoylase (OTC) deficiency is the only X-linked recessive urea cycle disorder.
Adult polycystic kidney disease Achondroplasia [Alpha.sub.1]-antitrypsin deficiency Breast cancer(*) Canavan disease Charcot-Marie-Tooth disease Congenital adrenal hyperplasia Cystic fibrosis Duchenne/Becker muscular dystrophy Hereditary thrombotic predisposition (Factor V mutation) Familial adenomatous polyposis Familial hypercholesterolemia Fragile X syndrome Galactosemia Gaucher disease Hemophilia A and B Huntington's disease Marfan syndrome Mitochondrial disorders Myotonic dystrophy Neurofibromatosis types 1 and 2 Ornithine transcarbamoylase (OTC) deficiency Phenylketonuria Spinal muscular atrophy Spinocerebellar ataxia Sickle-cell disease Tay-Sachs disease [Alpha] and [Beta]-thalassemia Tuberous sclerosis(*) Von Hippel-Lindau disease(*)
Mutations and polymorphisms in the human ornithine transcarbamoylase gene.

Full browser ?