- Metabolite
- HMDB0000468 (Biopterin)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 20.6 (19.2 - 22.0) uM
- Age
- Adult (>18 years old)
- Sex
- Not Specified
- Condition
- Segawa Syndrome
References
- Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, Ichinose H, Kira J: A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. Clin Neurol Neurosurg. 2006 Dec;108(8):784-6. Epub 2005 Nov 14. [PubMed:16289769 ]