OnlineIMD
N-acetylglutamate synthase deficiency
(NAGS deficiency)
Synonym(s)
NAGS deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
NAGS
/ N-acetylglutamate synthase
17q21.31
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
N-acetylglutamate synthase
Pathway
Urea Cycle
Disease group(s)
1.1 Urea cycle disorders and inherited hyperammonemias