N-acetylglutamate synthase deficiency

created [InstanceEdit:9955537] Rothfels, Karen, 2025-06-10
databaseName DOID
dbId 9955536
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.
displayName N-acetylglutamate synthase deficiency
identifier 0112258
name
  • N-acetylglutamate synthase deficiency
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • NAG synthetase deficiency
  • NAGS deficiency
  • N-acetylglutamate synthetase deficiency
  • N-acetyl glutamate synthetase deficiency
  • hyperammonemia due to N-acetylglutamate synthase deficiency
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0112258

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