- Metabolite
- HMDB0001491 (Pyridoxal 5'-phosphate)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.00500-0.00600 uM
- Age
- Children (1-13 years old)
- Sex
- Female
- Condition
- Epilepsy, early-onset, vitamin B6-dependent
References
- Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crecy-Lagard V, Mills PB, Clayton PT: Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011. [PubMed:27912044 ]