Search Ontology:
Human Disease

N-acetylglutamate synthase deficiency

Term ID
DOID:0112258
Synonyms
  • hyperammonemia due to N-acetylglutamate synthase deficiency
  • N-acetyl glutamate synthetase deficiency
  • N-acetylglutamate synthetase deficiency
  • NAG synthetase deficiency
  • NAGS deficiency
Definition
A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. (2)
References
Ontology
Human Disease   ( DOID:0112258 )
Relationships
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Genes Involved
Zebrafish Models