Urea cycle and related diseases (Homo sapiens)
From WikiPathways
Description
The urea cycle converts toxic nitrogenous compounds to excretable urea in five biochemical reactions. It is also the source for endogenous arginine, ornithine and citrulline production. The process mainly takes place in the liver, partly in the mitochondria and partly in the cytoplasm of the hepatocytes.
Because there is no alternative way to convert toxic nitrogenous compounds, defects in the enzymes or transporters can lead to several diseases (diseases highlighted in pink). The diseases are characterised by hyperammonemia, respiratory alkalosis and encephalopathy and the severity of the disease depends on the severity of the defect and the place of the defect in the cycle. Severe forms usually have an onset in infancy, while mild forms can also present in adulthood.
This pathway is based on: Mew NA, et al. Urea cycle disorders overview (2003) [1]Quality Tags
Ontology Terms
Bibliography
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- Derek Wong, Stephen Cederbaum, Eric A Crombez; ''Arginase deficiency''; GeneReviews® [Internet], 2004 PubMed Europe PMC Scholia
- Nicholas Ah Mew, Kara L Simpson, Andrea L Gropman, Brendan C Lanpher, Kimberly A Chapman, Marshall L Summar; ''Urea Cycle Disorders Overview''; GeneReviews® [Internet], 2003 PubMed Europe PMC Scholia
- Baruteau J, Perocheau DP, Hanley J, Lorvellec M, Rocha-Ferreira E, et al.; ''Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer''; Nat Commun, 2018 PubMed Europe PMC Scholia
- Takeyori Saheki, Yuan-Zong Song; ''Citrin Deficiency''; GeneReviews® [Internet], 2005 PubMed Europe PMC Scholia
- Yang X, Shi J, Lei H, Xia B, Mu D; ''Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.''; Medicine (Baltimore), 2017 PubMed Europe PMC Scholia
- Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD; ''Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome''; Pediatr Res, 2006 PubMed Europe PMC Scholia
- Shane C Quinonez, Jess G Thoene; ''Citrullinemia Type I''; GeneReviews® [Internet], 2004 PubMed Europe PMC Scholia
- Kido J, Kawasaki T, Mitsubuchi H, Kamohara H, Ohba T, Matsumoto S, Endo F, Nakamura K; ''Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency''; World J Hepatol, 2017 PubMed Europe PMC Scholia
- Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, et al.; ''N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region''; Sci Rep, 2018 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
ARG1 | Protein | P05089 (Uniprot-TrEMBL) | |
ASL | Protein | P04424 (Uniprot-TrEMBL) | |
ASS1 | Protein | P00966 (Uniprot-TrEMBL) | |
Acetyl-CoA | Metabolite | CHEBI:57288 (ChEBI) | (4-) charge needed for conversion to take place |
Arginine | Metabolite | CHEBI:32682 (ChEBI) | (1) charge needed for conversion to take place |
Argininosuccinate | Metabolite | CHEBI:57472 (ChEBI) | (1-) charge needed for conversion to take place |
Aspartate | Metabolite | CHEBI:29991 (ChEBI) | (1-) charge needed for conversion to take place |
CPS1 | Protein | P31327 (Uniprot-TrEMBL) | |
Carbamoyl-phosphate | Metabolite | CHEBI:58228 (ChEBI) | (2-) charge needed for conversion to take place |
Citrin | Protein | Q9UJS0 (Uniprot-TrEMBL) | |
Citrulline | Metabolite | CHEBI:57743 (ChEBI) | Zwitterion needed for conversion to take place |
Fumarate | Metabolite | CHEBI:29806 (ChEBI) | (2-) charge needed for conversion to take place |
GLS2 | Protein | Q9UI32 (Uniprot-TrEMBL) | |
Glutamate | Metabolite | CHEBI:29985 (ChEBI) | (1-) charge needed for conversion to take place |
Glutamine | Metabolite | CHEBI:58359 (ChEBI) | Zwitterion needed for conversion to take place |
HCO3- | Metabolite | CHEBI:17544 (ChEBI) | |
N-acetylglutamate | Metabolite | CHEBI:44337 (ChEBI) | (2-) charge needed for conversion to take place |
NAGS | Protein | Q8N159 (Uniprot-TrEMBL) | |
NH4+ | Metabolite | CHEBI:28938 (ChEBI) | |
ORNT1 | Protein | Q9Y619 (Uniprot-TrEMBL) | |
OTC | Protein | P00480 (Uniprot-TrEMBL) | |
Ornithine | Metabolite | CHEBI:46911 (ChEBI) | (1) charge needed for conversion to take place |
Pyrimidine metabolism and diseases | Pathway | WP4225 (WikiPathways) | |
Urea | Metabolite | CHEBI:16199 (ChEBI) |
Annotated Interactions
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Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
Acetyl-CoA | mim-conversion | 24293 (Rhea) | ||
Arginine | Ornithine | mim-conversion | 20570 (Rhea) | |
Argininosuccinate | Arginine | mim-conversion | 24021 (Rhea) | |
Aspartate | mim-conversion | 10933 (Rhea) | ||
Carbamoyl-phosphate | Citrulline | mim-conversion | 19514 (Rhea) | |
Citrulline | Argininosuccinate | mim-conversion | 10933 (Rhea) | |
Fumarate | mim-conversion | 24021 (Rhea) | ||
Glutamate | N-acetylglutamate | mim-conversion | 24293 (Rhea) | |
Glutamine | Glutamate | mim-conversion | 15890 (Rhea) | |
HCO3- | mim-conversion | 18030 (Rhea) | ||
NH4+ | Carbamoyl-phosphate | mim-conversion | 18030 (Rhea) | |
NH4+ | mim-conversion | 15890 (Rhea) | ||
Ornithine | mim-conversion | 19514 (Rhea) | ||
mim-conversion | 20570 (Rhea) |