Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Sign Up to like & getrecommendations! Published in 2021 at "Human mutation"
DOI: 10.1002/humu.24281
Abstract: N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive urea cycle disorder caused either by decreased expression of the NAGS gene or defective NAGS enzyme resulting in decreased production of N-acetylglutamate (NAG), an allosteric… read more here.
Keywords: acetylglutamate synthase; non coding; sequence variants; coding sequence ... See more keywords
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
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DOI: 10.1038/s41598-021-82994-8
Abstract: The urea cycle protects the central nervous system from ammonia toxicity by converting ammonia to urea. N-acetylglutamate synthase (NAGS) catalyzes formation of N-acetylglutamate, an essential allosteric activator of carbamylphosphate synthetase 1. Enzymatic activity of mammalian… read more here.
Keywords: nags mice; acetylglutamate synthase; activation; gene ... See more keywords
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
Sign Up to like & getrecommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-024-03167-0
Abstract: Background The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in 2,000,000 live births. Hyperammonemic crises can be avoided in individuals… read more here.
Keywords: nags deficiency; carbamylglutamate; nutrition management; deficiency ... See more keywords
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
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DOI: 10.3390/ijms19020345
Abstract: 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.… read more here.
Keywords: onset; late onset; acetylglutamate synthase; synthase deficiency ... See more keywords