Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NAGS

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, NAGS

Definition : Molecular assay reagents intended to identify mutations in the N-acetylglutamate synthase (NAGS) gene, located at chromosome 17q21.31, which encodes for the enzyme N-acetylglutamate synthase, needed for the urea cycle. Mutations at this locus have been identified in patients with N-acetylglutamate synthase (NAGS) deficiency, an early-onset (newborn) urea cycle disorder characterized by severe hyperammonemia, spasticity, seizures, and loss of mental development.

Entry Terms : "Urea Cycle Disorders Gene Mutation Reagents" , "N-Acetylglutanmate Synthase (NAGS) Deficiency Gene Mutation Reagents" , "NAGS Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, NAGS"

UMDC code : 24633

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