KEGG DISEASE: Primary hyperammonemia (Urea cycle disorders)

KEGG

DISEASE: Primary hyperammonemia (Urea cycle disorders)

Entry

H01398                      Disease

Name

Primary hyperammonemia (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 hyperammonemia 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 disorder

Brite

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 hyperammonemia (Urea cycle disorders)
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
  nt06010  Urea cycle
   H01398  Primary hyperammonemia (Urea cycle disorders)

Pathway

Arginine biosynthesis

Network

nt06010 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:

ICD-10:

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

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

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

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

LinkDB

» Japanese version

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