- Metabolite
- HMDB0000468 (Biopterin)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.0376 (0.0281-0.0471) uM
- Age
- Children (1-13 years old)
- Sex
- Male
- Condition
- sepiapterin reductase deficiency
References
- Verbeek MM, Willemsen MA, Wevers RA, Lagerwerf AJ, Abeling NG, Blau N, Thony B, Vargiami E, Zafeiriou DI: Two Greek siblings with sepiapterin reductase deficiency. Mol Genet Metab. 2008 Aug;94(4):403-9. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. [PubMed:18502672 ]