transcarbamylase

trans·car·bam·yl·ase

(trăns′kär-băm′ə-lās′, -lāz′) or trans·car·bam·o·yl·ase (trăns′kär-băm′ō-ə-lās′, -lāz′)
n.
Any of various enzymes that catalyze the transfer of carbamyl groups from one molecule to another. Also called carbamyltransferase.
References in periodicals archive ?
Ultragenyx Pharmaceutical announced positive longer-term safety and efficacy data from the first dose cohort of the Phase 1/2 study of DTX301, an investigational adeno-associated virus gene therapy for the treatment of ornithine transcarbamylase deficiency.
Jesse was a teenager who suffered from ornithine transcarbamylase deficiency, an X-linked genetic disease of the liver, characterized by an inability to metabolize ammonia.
DTX301 is intended for the treatment of ornithine transcarbamylase deficiency.
DTX301 for the treatment of ornithine transcarbamylase deficiency, which is designed to use the NAV AAV8 vector to deliver a copy of the OTC gene to liver cells.
These enzymes are carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS), argininosuccinate lyase (ASL), arginase and N-acetylglutamate synthetase.
Ornithine transcarbamylase (OTC) deficiency describes an X-chromosomal linked disorder that has more than 200 known gene mutations.
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer.
This hypothesis was tested in a mouse model of a rare metabolic urea-cycle disorder caused by a deficiency in an enzyme called ornithine transcarbamylase (OTC).
The effect of paternal age is established in a wide range of diseases (spontaneous dominant disorders as achondroplasia, [7] X-linked disorders as Lesch-Nyhan syndrome and ornithine transcarbamylase [8, 9] multifactorial inheritance, congenital anomalies, [10] childhood cancers, [11] autism, [12] schizophrenia [13] bipolar disorder [14] reduced neurocognitive abilities, [15] and increased telomere length [16]).
For example, the father of an 18-year-old subject who died in a University of Pennsylvania experiment aimed at developing a gene therapy for a genetic disease called ornithine transcarbamylase sued the investigators for negligently enrolling his son without proper safety testing.
Mimickers of zinc deficiency include biotinidase deficiency, methylmalonic acidemia, propionic acidemia, maple syrup urine disease, citrullinemia, and ornithine transcarbamylase deficiency.
As a baby she had been diagnosed with ornithine transcarbamylase (OTC) deficiency, which means her body builds up dangerous levels of ammonia and need constant monitoring.

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