KEGG   NETWORK: N00594
Entry
N00594                      Network                                

Name
ARG1 deficiency in urea cycle
Definition
NH3 -- CPS1 >> OTC >> ASS1 >> ASL >> ARG1*
  Expanded
C00014 -- 1373 >> 5009 >> 445 >> 435 >> 383v1
Class
nt06010 Urea cycle
Type
Variant
Disease
H01398  Primary hyperammonemic disorders (Urea cycle disorders)
H00186  Hyperargininemia
Gene
1373  CPS1; carbamoyl-phosphate synthase 1
5009  OTC; ornithine carbamoyltransferase
445  ASS1; argininosuccinate synthase 1
435  ASL; argininosuccinate lyase
383  ARG1; arginase 1
Variant
383v1 (ARG1*)  ARG1 deficiency
Metabolite
C00014  Ammonia
Reference
PMID:1463019
  Authors
Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I
  Title
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
  Journal
Am J Hum Genet 51:1406-12 (1992)

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