KEGG   NETWORK: N00598
Entry
N00598                      Network                                

Name
CPS1 deficiency in urea cycle
Definition
NH3 -- CPS1*
  Expanded
C00014 -- 1373v1
Class
nt06010 Urea cycle
Type
Variant
Disease
H01398  Primary hyperammonemic disorders (Urea cycle disorders)
H00164  Carbamoyl phosphate synthetase I deficiency
Gene
1373  CPS1; carbamoyl-phosphate synthase 1
Variant
1373v1 (CPS1*)  CPS1 deficiency
Metabolite
C00014  Ammonia
Reference
  Authors
Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T
  Title
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
  Journal
J Hum Genet 52:349-54 (2007)
DOI:10.1007/s10038-007-0122-9

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