KEGG   DISEASE: Carbamoyl phosphate synthetase I deficiency
Entry
H00164                      Disease                                

Name
Carbamoyl phosphate synthetase I deficiency
  Supergrp
Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
Description
Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia.
Category
Inherited metabolic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00164  Carbamoyl phosphate synthetase I deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00164  Carbamoyl phosphate synthetase I deficiency
Pathway
hsa00220  Arginine biosynthesis
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00910  Nitrogen metabolism
Network
nt06010  Urea cycle
  Element
N00598  CPS1 deficiency in urea cycle
Gene
CPS1; carbamoyl-phosphate synthase [HSA:1373] [KO:K01948]
Drug
Sodium phenylbutyrate [DR:D05868]
Other DBs
ICD-11: 5C50.A1
ICD-10: E72.2
MeSH: D020165
OMIM: 237300
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
Reference
PMID:9711878
  Authors
Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A
  Title
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
  Journal

» Japanese version

DBGET integrated database retrieval system