Biomarkers for urea cycle disorders (Homo sapiens)

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31AST/ALTratioUreaGuanidinoacetateHomocitrullineTyrosineCarbamoyl-phosphateAlanine and aspartate metabolismGlutamineAmino Acid metabolismBiochemical Pathways Part INH4+GAMTMethionineGATMGalactoseOrotateThreoninePyrimidinemetabolismFactor XASTArgininosuccinateALTFactor VIIUrea cycleCreatineOrnithineCitrullineBlood Clotting CascadeArginineGLS22GlutamateARG1ASS1ASLNAGSFumarateN-acetylglutamateOTCAspartate(S)-Beta-aminoisobutyrateBeta-alanine


Urea cycle disorders are caused by enzyme defects in the Urea cycle (WP4571). 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.

The diagnosis of Urea cycle disorders is based on altered concentrations of different metabolic biochemical markers. Some of these markers are metabolites in Urea cycle, but there are also several other markers, that are either indirectly or not related to the Urea cycle. All metabolic markers used for the diagnosis of at least one Urea cycle disorder and their relations are visualized in this pathway. Biochemical markers derived from, for all diseases pictured in WP4571.

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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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123408view06:49, 23 July 2022EgonwMade multiple pathways clickable
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


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NameTypeDatabase referenceComment
(S)-Beta-aminoisobutyrateMetaboliteCHEBI:57731 (ChEBI)
  • aka (R)-3-amino-2-methylpropanoate
  • Zwitterion needed for conversion to take place
ALTProteinP24298 (Uniprot-TrEMBL) aka Alanine aminotransferase
ARG1ProteinP05089 (Uniprot-TrEMBL)
ASLProteinP04424 (Uniprot-TrEMBL)
ASS1ProteinP00966 (Uniprot-TrEMBL)
ASTProteinP17174 (Uniprot-TrEMBL) aka Aspartate aminotransferase
Alanine and aspartate metabolismPathwayWP106 (WikiPathways)
Amino Acid metabolismPathwayWP3925 (WikiPathways)
ArginineMetaboliteCHEBI:32682 (ChEBI) (1+) charge needed for conversion to take place
ArgininosuccinateMetaboliteCHEBI:57472 (ChEBI) (1-) charge needed for conversion to take place
AspartateMetaboliteCHEBI:29991 (ChEBI) (1-) charge needed for conversion to take place
Beta-alanineMetaboliteCHEBI:57966 (ChEBI) Zwitterion needed for conversion to take place
Biochemical Pathways Part IPathwayWP3604 (WikiPathways)
Blood Clotting CascadePathwayWP272 (WikiPathways)
Carbamoyl-phosphateMetaboliteCHEBI:58228 (ChEBI) (2-) charge needed for conversion to take place
CitrullineMetaboliteCHEBI:57743 (ChEBI) Zwitterion needed for conversion to take place
CreatineMetaboliteCHEBI:57947 (ChEBI) Zwitterion needed for conversion to take place
Factor VIIProteinP08709 (Uniprot-TrEMBL)
Factor XProteinP00742 (Uniprot-TrEMBL)
FumarateMetaboliteCHEBI:29806 (ChEBI) (2-) charge needed for conversion to take place
GAMTProteinQ14353 (Uniprot-TrEMBL)
GATMProteinP50440 (Uniprot-TrEMBL)
GLS2ProteinQ9UI32 (Uniprot-TrEMBL)
Galactose MetaboliteHMDB0000143 (HMDB)
GlutamateMetaboliteCHEBI:29985 (ChEBI) (1-) charge needed for conversion to take place
GlutamineMetaboliteCHEBI:58359 (ChEBI) Zwitterion needed for conversion to take place
GuanidinoacetateMetaboliteCHEBI:57742 (ChEBI) Zwitterion needed for conversion to take place
Homocitrulline MetaboliteCHEBI:58148 (ChEBI) Zwitterion needed for conversion to take place
Methionine MetaboliteHMDB0000696 (HMDB)
N-acetylglutamateMetaboliteCHEBI:44337 (ChEBI) (2-) charge needed for conversion to take place
NAGSProteinQ8N159 (Uniprot-TrEMBL)
NH4+MetaboliteCHEBI:28938 (ChEBI)
OTCProteinP00480 (Uniprot-TrEMBL)
OrnithineMetaboliteCHEBI:46911 (ChEBI) (1) charge needed for conversion to take place
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)
ArginineOrnithinemim-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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