- Metabolite
- HMDB0000289 (Uric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 75-277 umol/mmol creatinine
- Age
- Adult (>18 years old)
- Sex
- Female
- Condition
- Cerebral creatine deficiency syndrome 2
References
- Caldeira Araujo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomas H, Tavares de Almeida I, Jakobs C, Duran M: Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A. 2005 Mar 1;133A(2):122-7. [PubMed:15651030 ]