KEGG   DISEASE: Primary hyperammonemic disorders (Urea cycle disorders)Help
Entry
H01398                      Disease                                

Name
Primary hyperammonemic disorders (Urea cycle disorders)
  Subgroup
N-acetylglutamate synthase deficiency [DS:H01032]
Carbamoylphosphate synthetase 1 deficiency [DS:H00164]
Ornithine carbamoyltransferase deficiency [DS:H00187]
Citrullinemia [DS:H00185]
Argininosuccinic aciduria [DS:H01028]
Hyperargininemia [DS:H00186]
Hyperammonemia-Hyperornithinemia-Homocitrullinuria syndrome [DS:H01268]
Description
Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be classified into primary or secondary hyperammonemias depending on the underlying pathophysiology. Detoxification of ammonia is mainly accomplished by the urea cycle in periportal hepatocytes. If the urea cycle is directly affected by a defect of any of the involved enzymes or transporters, this results in primary hyperammonemia.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01398  Primary hyperammonemic disorders (Urea cycle disorders)
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
     H01398  Primary hyperammonemic disorders (Urea cycle disorders)
BRITE hierarchy
Pathway
hsa00220  Arginine biosynthesis
Network
nt06010  Urea cycle
  Element
N00594  ARG1 deficiency in urea cycle
N00595  ASL deficiency in urea cycle
N00596  ASS deficiency in urea cycle
N00597  OTC deficiency in urea cycle
N00598  CPS1 deficiency in urea cycle
N00600  NAGS deficiency in urea cycle
Gene
NAGS [HSA:162417] [KO:K11067]
CPS1 [HSA:1373] [KO:K01948]
OTC [HSA:5009] [KO:K00611]
ASS1 [HSA:445] [KO:K01940]
ASL [HSA:435] [KO:K01755]
ARG1 [HSA:383] [KO:K01476]
SLC25A15 [HSA:10166] [KO:K15101]
SLC25A13 [HSA:10165] [KO:K15105]
Drug
Sodium phenylbutyrate [DR:D05868]
Glycerol phenylbutyrate [DR:D10127]
Sodium phenylacetate and sodium benzoate [DR:D10205]
Other DBs
ICD-11: 5C50.A
ICD-10: E72.2
MeSH: D022124 D056806
OMIM: 237310 237300 311250 215700 207900 207800 238970 603471 605814
Reference
  Authors
Haberle J
  Title
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders.
  Journal
Arch Biochem Biophys 536:101-8 (2013)
DOI:10.1016/j.abb.2013.04.009
Reference
  Authors
Wilkinson DJ, Smeeton NJ, Watt PW
  Title
Ammonia metabolism, the brain and fatigue; revisiting the link.
  Journal
Prog Neurobiol 91:200-19 (2010)
DOI:10.1016/j.pneurobio.2010.01.012
Reference
PMID:25042691 (drug)
  Authors
Burrage LC, Jain M, Gandolfo L, Lee BH, Nagamani SC
  Title
Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.
  Journal
Mol Genet Metab 113:131-5 (2014)
DOI:10.1016/j.ymgme.2014.06.005
Reference
PMID:25908985 (drug)
  Authors
Machado MC, Pinheiro da Silva F
  Title
Hyperammonemia due to urea cycle disorders: a potentially fatal condition in the intensive care setting.
  Journal
J Intensive Care 2:22 (2014)
DOI:10.1186/2052-0492-2-22
Reference
PMID:25895618 (drug)
  Authors
Matoori S, Leroux JC
  Title
Recent advances in the treatment of hyperammonemia.
  Journal
Adv Drug Deliv Rev 90:55-68 (2015)
DOI:10.1016/j.addr.2015.04.009

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