KEGG   DISEASE: N-acetylglutamate synthase deficiencyHelp
Entry
H01032                      Disease                                

Name
N-acetylglutamate synthase deficiency
  Supergrp
Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
Description
N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01032  N-acetylglutamate synthase 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
     H01032  N-acetylglutamate synthase deficiency
BRITE hierarchy
Pathway
hsa00220  Arginine biosynthesis
Network
nt06010  Urea cycle
  Element
N00600  NAGS deficiency in urea cycle
Gene
NAGS [HSA:162417] [KO:K11067]
Drug
Carglumic acid [DR:D07130]
Other DBs
ICD-11: 5C50.AY
ICD-10: E72.2
MeSH: C536109
OMIM: 237310
Reference
  Authors
Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M
  Title
N-acetylglutamate synthase: structure, function and defects.
  Journal
Mol Genet Metab 100 Suppl 1:S13-9 (2010)
DOI:10.1016/j.ymgme.2010.02.018
Reference
  Authors
Haberle J
  Title
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
  Journal
Ther Clin Risk Manag 7:327-32 (2011)
DOI:10.2147/TCRM.S12703
LinkDB All DBs

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