hyperammonemia due to N-acetylglutamate synthase deficiency
N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
N-acetyl glutamate synthetase deficiency
related
N-acetylglutamate synthase deficiency
related
NAG synthetase deficiency
related
NAGS deficiency
exact
NAGSD
related
hyperammonemia due to N-acetylglutamate synthase deficiency
exact
SPAC4G9.09c SPBC725.14