Biomarkers for urea cycle disorders (Homo sapiens)

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ASAT/ALATratioFactor VIINH4+ArgininosuccinateGAMTCarbamoyl-phosphateTyrosineUrea cycleAlanine and aspartate metabolismOrnithineGalactoseUreaCitrullineGlutamineOrotateFactor XASATGuanidinoacetateAmino Acid metabolismMethionineBiochemical Pathways Part IALATPyrimidinemetabolismBlood Clotting CascadeGATMHomocitrullineCreatineThreonineArginineGLS2GlutamateARG1ASS1ASLNAGSFumarateN-acetylglutamateOTCAspartate


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]

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Ontology Terms



  1. Humm A, Fritsche E, Steinbacher S, Huber R; ''Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis.''; EMBO J, 1997 PubMed Europe PMC Scholia
  2. Tapiero H, Mathé G, Couvreur P, Tew KD; ''II. Glutamine and glutamate.''; Biomed Pharmacother, 2002 PubMed Europe PMC Scholia
  3. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML; ''Urea Cycle Disorders Overview''; , 1993 PubMed Europe PMC Scholia


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106803view13:28, 17 September 2019MaintBotHMDB identifier normalization
105146view11:11, 11 July 2019EgonwL-form of methionine.
104797view08:50, 18 June 2019IreneHemelAdded two metabolites that are measured in AA panel
104208view09:10, 10 May 2019IreneHemelChanged AST and ALT text labels
104158view08:46, 7 May 2019IreneHemelAdded information about metabolite charge to DataNode comments
104145view13:20, 6 May 2019IreneHemelOntology Term : 'carbamoyl phosphate synthetase I deficiency disease' added !
104144view13:20, 6 May 2019IreneHemelOntology Term : 'argininosuccinic aciduria' added !
104143view13:20, 6 May 2019IreneHemelOntology Term : 'hyperargininemia' added !
104142view13:19, 6 May 2019IreneHemelOntology Term : 'citrullinemia' added !
104141view13:18, 6 May 2019IreneHemelOntology Term : 'ornithine carbamoyltransferase deficiency' added !
104140view13:18, 6 May 2019IreneHemelOntology Term : 'urea cycle disorder' added !
104139view13:18, 6 May 2019IreneHemelOntology Term : 'inborn error of urea cycle pathway' added !
104138view13:17, 6 May 2019IreneHemelOntology Term : 'urea cycle pathway' added !
104137view13:14, 6 May 2019IreneHemelAdded references
104116view10:03, 6 May 2019DeSlRemoved unnecessary references.
104115view10:01, 6 May 2019IreneHemelTest for references
104113view07:18, 6 May 2019IreneHemelFixed interaction
104096view13:24, 3 May 2019IreneHemelModified description
104093view13:14, 3 May 2019IreneHemelNew pathway

External references


View all...
NameTypeDatabase referenceComment
ALATProteinP24298 (Uniprot-TrEMBL) aka Alanine aminotransferase
ARG1ProteinP05089 (Uniprot-TrEMBL)
ASATProteinP17174 (Uniprot-TrEMBL) aka Aspartate aminotransferase
ASLProteinP04424 (Uniprot-TrEMBL)
ASS1ProteinP00966 (Uniprot-TrEMBL)
Alanine and aspartate metabolismPathwayWP106 (WikiPathways)
Amino Acid metabolismPathwayWP3925 (WikiPathways)
ArginineMetaboliteCHEBI:32682 (ChEBI)
ArgininosuccinateMetaboliteCHEBI:57472 (ChEBI)
AspartateMetaboliteCHEBI:29991 (ChEBI)
Biochemical Pathways Part IPathwayWP3604 (WikiPathways)
Blood Clotting CascadePathwayWP272 (WikiPathways)
Carbamoyl-phosphateMetaboliteCHEBI:58228 (ChEBI)
CitrullineMetaboliteCHEBI:57743 (ChEBI)
CreatineMetaboliteCHEBI:57947 (ChEBI)
Factor VIIProteinP08709 (Uniprot-TrEMBL)
Factor XProteinP00742 (Uniprot-TrEMBL)
FumarateMetaboliteCHEBI:29806 (ChEBI)
GAMTProteinQ14353 (Uniprot-TrEMBL)
GATMProteinP50440 (Uniprot-TrEMBL)
GLS2ProteinQ9UI32 (Uniprot-TrEMBL)
Galactose MetaboliteHMDB0000143 (HMDB)
GlutamateMetaboliteCHEBI:29985 (ChEBI)
GlutamineMetaboliteCHEBI:58359 (ChEBI)
GuanidinoacetateMetaboliteCHEBI:57742 (ChEBI)
Homocitrulline MetaboliteCHEBI:58148 (ChEBI)
Methionine MetaboliteHMDB0033951 (HMDB)
N-acetylglutamateMetaboliteCHEBI:44337 (ChEBI)
NAGSProteinQ8N159 (Uniprot-TrEMBL)
NH4+MetaboliteCHEBI:28938 (ChEBI)
OTCProteinP00480 (Uniprot-TrEMBL)
OrnithineMetaboliteCHEBI:46911 (ChEBI)
Orotate MetaboliteHMDB0000226 (HMDB)
Pyrimidine metabolismPathwayWP4225 (WikiPathways)
Threonine MetaboliteHMDB0000167 (HMDB)
Tyrosine MetaboliteHMDB0000158 (HMDB)
Urea cyclePathwayWP4571 (WikiPathways)
UreaMetaboliteCHEBI:16199 (ChEBI)

Annotated Interactions

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SourceTargetTypeDatabase referenceComment
ArginineGuanidinoacetatemim-conversion13202 (Rhea)
Argininemim-conversion20570 (Rhea)
ArgininosuccinateArgininemim-conversion24021 (Rhea)
Aspartatemim-conversion10933 (Rhea)
Carbamoyl-phosphateCitrullinemim-conversion19514 (Rhea)
Carbamoyl-phosphateHomocitrulline mim-conversion17122 (Rhea)
CitrullineArgininosuccinatemim-conversion10933 (Rhea)
Fumaratemim-conversion24021 (Rhea)
GlutamateN-acetylglutamatemim-conversion24293 (Rhea)
GlutamineGlutamatemim-conversion15890 (Rhea)
GuanidinoacetateCreatinemim-conversion10657 (Rhea)
NH4+Carbamoyl-phosphatemim-conversion18030 (Rhea)
NH4+mim-conversion15890 (Rhea)
Ornithinemim-conversion19514 (Rhea)
mim-conversion20570 (Rhea)
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