- Metabolite
- HMDB0000687 (Leucine)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 14.1-22.9 uM
- Age
- Newborn (0-30 days old)
- Sex
- Not Specified
- Condition
- Normal
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 ]