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Standards Ontologies Notations
urea cycle disorder

Summary
Synonym
  • disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
  • disorder of urea cycle metabolism
  • urea cycle defect
Definition
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
Super Class
amino acid metabolic disorder
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Disease Ontology
DOID:9267
Mondo Disease Ontology
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UMLS
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Related Genes
Displaying entries 21 - 22 of 22 in total
Gene ID Gene Symbol Description Source
5095 PCCA propionyl-CoA carboxylase subunit alpha
5096 PCCB propionyl-CoA carboxylase subunit beta
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024