Title : N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Pub. Date : 2018 Oct 18

PMID : 30337552






1 Functional Relationships(s)
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1 N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or decreased production of N-acetylglutamate (NAG) due to either decreased NAGS gene expression or defective NAGS enzyme. N-acetylglutamic acid N-acetyl-alpha-glucosaminidase Homo sapiens