- Metabolite
- HMDB0000070 (Pipecolic acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 2.8-23 uM
- Age
- Infant (0-1 year old)
- Sex
- Not Specified
- Condition
- Pyridoxine dependency with seizures (PDE)
References
- Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W: Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 2007 Jan;28(1):19-26. [PubMed:17068770 ]