urea cycle disorder

Term ID

DOID:9267

Synonyms

• 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. http://en.wikipedia.org/wiki/Urea_cycle_disorder

References

• GARD:7837
• ICD10CM:E72.2
• ICD9CM:270.6
• MESH:D056806
• NCI:C84785
• SNOMEDCT_US_2023_03_01:36444000
• UMLS_CUI:C0154246

Ontology

Human Disease   ( DOID:9267 )