KEGG   NETWORK: N00600
Entry
N00600                      Network                                

Name
NAGS deficiency in urea cycle
Definition
Glu -- NAGS* // NAG // CPS1
  Expanded
C00025 -- 162417v1 // C00624 // 1373
Class
nt06010 Urea cycle
Type
Variant
Disease
H01398  Primary hyperammonemic disorders (Urea cycle disorders)
H01032  N-acetylglutamate synthase deficiency
Gene
162417  NAGS; N-acetylglutamate synthase
1373  CPS1; carbamoyl-phosphate synthase 1
Variant
162417v1 (NAGS*)  NAGS deficiency
Metabolite
C00025  L-Glutamate
C00624  N-Acetyl-L-glutamate
Reference
  Authors
Haberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG
  Title
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
  Journal
Hum Mutat 21:593-7 (2003)
DOI:10.1002/humu.10216

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