KEGG   NETWORK: N00596
Entry
N00596                      Network                                

Name
ASS deficiency in urea cycle
Definition
NH3 -- CPS1 >> OTC >> ASS1*
  Expanded
C00014 -- 1373 >> 5009 >> 445v1
Class
nt06010 Urea cycle
Type
Variant
Disease
H01398  Primary hyperammonemic disorders (Urea cycle disorders)
H00185  Citrullinemia
Gene
1373  CPS1; carbamoyl-phosphate synthase 1
5009  OTC; ornithine carbamoyltransferase
445  ASS1; argininosuccinate synthase 1
Variant
445v1 (ASS1*)  ASS deficiency
Metabolite
C00014  Ammonia
Reference
  Authors
Diez-Fernandez C, Wellauer O, Gemperle C, Rufenacht V, Fingerhut R, Haberle J
  Title
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
  Journal
J Med Genet 53:710-9 (2016)
DOI:10.1136/jmedgenet-2016-103937

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