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N-acetylglutamate synthase deficiency a bibliography and dictionary for physicians, patients, and genome researchers [to Internet references] by James N. Parker

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Published by ICON Health Publications in San Diego, CA .
Written in English

Subjects:

  • Bibliography,
  • Diseases,
  • MEDICAL,
  • Dictionaries,
  • Hematology,
  • Research,
  • Genetic aspects,
  • Computer network resources,
  • Toxicology,
  • Ammonia,
  • Blood

Book details:

Edition Notes

StatementJames N. Parker and Philip M. Parker, editors
SeriesA 3-in-1 medical reference, 3-in-1 medical reference
Classifications
LC ClassificationsRC636 .N33 2007eb
The Physical Object
Format[electronic resource] :
Pagination1 online resource.
ID Numbers
Open LibraryOL27076481M
ISBN 101429496789
ISBN 109781429496780
OCLC/WorldCa173843869

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N-acetylglutamate Synthetase Deficiency. N-acetylglutamate is an obligatory allosteric activator of carbamoylphosphate synthetase I (CPS-I) synthesized in the liver mitochondria by N-acetylglutamate synthetase (NAGS). A small but increasing number of patients with deficiency of the NAGS enzyme (OMIM ) have been reported (–). In addition, N-acetylglutamate synthase (NAGS; EC ), ornithine/citrulline transporter (ORNT) and aspartate/glutamate transporter (also known as either Aralar2 or citrin) are required for the normal function of the urea cycle in mammals. The first reaction of the urea cycle is the formation of carbamylphosphate (CP). N-Acetylglutamate synthetase (NAGS) deficiency is a genetic disorder of ammonia detoxication. These disorders result in acute and chronic hyperammonemia, becoming evident in early infancy. They are associated with a high mortality and morbidity. N-acetylglutamate synthase deficiency (NAGS) Test Cost ₹ 24, ₹ 19, Book Test. Show Filters. Showing all 1 result. Top rated products. Nephronophthisis type 1 (NPHP1) Test Cost. Rated 5 out of 5 ₹ 24, ₹ 19,; Glycogen storage disease type 3 (AGL) Test Cost.

Caldovic L, Morizono H, Daikhin Y et al () Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr (4)– CrossRef PubMed Google Scholar Caldovic L, Morizono H, Gracia Panglao M et al () Cloning and expression of the human N -acetylglutamate synthase gene. N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a year-old woman with recurrent headaches who experienced an acute onset of NAGSD.   N-acetylglutamate synthase deficiency (NAGS deficiency) has been described in a number of affected individuals. Symptoms mimic those of CPS1 deficiency, as CPS1 is rendered inactive in the absence of N-acetylglutamate [Caldovic et al ]. Carbamoylphosphate synthetase I deficiency (CPS1 deficiency) is the most severe of the urea cycle. N-acetylglutamate synthase deficiency: a bibliography and dictionary for physicians, patients, and genome researchers [to Internet references].

Carglumic Acid is an orally active, synthetic structural analogue of N-acetylglutamate (NAG) and carbamoyl phosphate synthetase 1 (CPS 1) activator, with ammonia lowering activity. NAG, which is formed by the hepatic enzyme N-acetylglutamate synthase (NAGS), is an essential allosteric activator of the enzyme carbamoyl phosphate synthetase 1 (CPS 1). CPS 1 plays an essential role in the urea. Abstract N-acetylglutamate synthase deficiency (NAGSD, MIM #) is an autosomal recessive disorder of the urea cycle that results from absent or decreased production of N-acetylglutamate . N-Acetylglutamate synthase (NAGS, E.C. ) is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG), an essential allosteric activator of carbamylphosphate synthetase. N-acetylglutamate synthase is stimulated by _____. When there are adequate amounts of ____ and _____, the synthesis of ____ _____ and the urea cycle will be stimulated. Deficiency of carbamoyl synthase 1 or N-acetylglutamate synthase results in what? elevated ammonia and glutamine only. The ICU Book Tidbits. 49 terms. JakeRipp. THIS SET.