KEGG   DISEASE: Secondary hyperammonemia
Entry
H01400                      Disease                                

Name
Secondary hyperammonemia
  Subgroup
Methylmalonic aciduria [DS:H00174]
Propionic aciduria [DS:H00175]
Isovaleric aciduria [DS:H00173]
Fatty acid oxidation and carnitine cycle defects [DS:H00525]
Glutaric acidemia [DS:H00178]
Lysinuric protein intolerance [DS:H00899]
Pyruvate carboxylase deficiency [DS:H00073]
Ornithinaemia [DS:H00189]
Hyperinsulinism-hyperammonemia syndrome [DS:H01267]
Glutamine synthetase deficiency [DS:H00923]
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. The function of the urea cycle may be affected in a secondary way in a number of different situations. For example, intermediary metabolites that accumulate due to enzymatic defects in other pathways, may inhibit the urea cycle. The most relevant group of disorders in this respect is that of organic acidemias. The urea cycle function may be impaired by substrate deficiencies assumed cause in various disorders including lysinuric protein intolerance, pyrroline-5-carboxylate synthetase deficiency, and fatty acid oxidation defects. In addition to the urea cycle, mammals require the function of glutamine synthetase to completely detoxify ammonia.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01400  Secondary hyperammonemia
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
     H01400  Secondary hyperammonemia
Pathway
hsa00280  Valine, leucine and isoleucine degradation
hsa00071  Fatty acid degradation
Gene
MUT [HSA:4594] [KO:K01847]
PCCA [HSA:5095] [KO:K01965]
PCCB [HSA:5096] [KO:K01966]
IVD [HSA:3712] [KO:K00253]
ACADM [HSA:34] [KO:K00249]
ETFDH [HSA:2110] [KO:K00311]
ETFA [HSA:2108] [KO:K03522]
ETFB [HSA:2109] [KO:K03521]
CPT2 [HSA:1376] [KO:K08766]
SLC25A20 [HSA:788] [KO:K15109]
SLC7A7 [HSA:9056] [KO:K13867]
ALDH18A1 [HSA:5832] [KO:K12657]
PC [HSA:5091] [KO:K01958]
OAT [HSA:4942] [KO:K00819]
CA5A [HSA:763] [KO:K01672]
GLUD1 [HSA:2746] [KO:K00261]
TMEM70 [HSA:54968] [KO:K17966]
GLUL [HSA:2752] [KO:K01915]
Other DBs
ICD-11: 5C50.A
ICD-10: E72.2
MeSH: D022124
OMIM: 251000 606054 243500 201450 231680 608836 212138 222700 219150 266150 258870 615751 606762 614052 610015
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
PMID:19707277 (drug)
  Authors
Al Sibae MR, McGuire BM
  Title
Current trends in the treatment of hepatic encephalopathy.
  Journal
Ther Clin Risk Manag 5:617-26 (2009)
DOI:10.2147/TCRM.S4443
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
Reference
PMID:14085036 (drug)
  Authors
SCHROEDER HA
  Title
AN AMMONIA DETOXICANT, ARGININE GLUTAMATE.
  Journal
JAMA 187:359-60 (1964)
DOI:10.1001/jama.1964.03060180045014
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