Article

Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

2021-05-02

Abstract excerpt

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 activator of carbamylphosphate synthetase 1 (CPS1). NAGSD is the only urea cycle disorder that can be effectively treated with a single drug, N-carbamylglut...

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Literature Corpus work: 37836244-9325-5697-afbe-7099c03d1075
DOI: 10.22541/au.161997823.33283461/v1

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