- Metabolite
- HMDB0000301 (Urocanic acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 158-202 umol/mmol creatinine
- Age
- Adolescent (13-18 years old)
- Sex
- Not Specified
- Condition
- Urocanase deficiency
References
- Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R: Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. J Med Genet. 2009 Jun;46(6):407-11. doi: 10.1136/jmg.2008.060632. Epub 2009 Mar 19. [PubMed:19304569 ]