Svoboda
|
Graniru
|
BBC Russia
|
Golosameriki
|
Facebook
NETWORK: N00600
Help
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 hyperammonemia (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
PMID:
12754705
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
LinkDB
All DBs
DBGET
integrated database retrieval system