- Metabolite
- HMDB0000262 (Thymine)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.04 - 0.2 uM
- Age
- Adult (>18 years old)
- Sex
- Not Specified
- Condition
- Beta-ureidopropionase deficiency
References
- van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. [PubMed:15385443 ]