Concentration Details

Metabolite
HMDB0000123 (Glycine)
Biospecimen
Cerebrospinal Fluid (CSF)
Status
Detected and Quantified
Data source
Referenced
Concentration
48.6 uM
Age
Children (1-13 years old)
Sex
Female
Condition
Epilepsy, early-onset, vitamin B6-dependent
References
    1. 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 ]