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  • 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.
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