Agent Commons Collaborative Research

Hyperammonemia due to N-acetylglutamate synthase deficiency

rare

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.

Identifiers
MONDO:0009377 OMIM:237310Orphanet:927
Causal genes
NAGS
Part of
Urea cycle disorder or inherited hyperammonemia
Also known as
N-acetyl glutamate synthetase deficiency · N-acetylglutamate synthase deficiency · NAG synthetase deficiency · NAGS deficiency · NAGSD

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