Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

Abstract

Highlights Vitamin B6 (VB6) profiles in VB6-dependent epilepsy (ALDH7A1 and pyridoxal 5′phosphate [PLP] homeostasis protein deficiency) and other epilepsies were investigated.  In VB6-dependent epilepsy, concentrations of both PLP and pyridoxal (PL) in the cerebrospinal fluid were low whereas in the majority of other epilepsies with low PLP concentrations, PL concentrations were normal. Low PL concentrations in the cerebrospinal fluid may be a better indicator of VB6dependent epilepsy, particularly for PLP homeostasis protein deficiency, which currently lacks diagnostic metabolic biomarkers.

Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein

“…( 1 ) as PROSC deficiency, expanded the group of vitamin B 6 –dependent epilepsies. While the number of identified affected patients has increased to 57 ( 1 , 2 , 3 , 4 , 6 , 7 , 8 , 9 , 10 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ), the precise molecular function of PLPHP and how it regulates cellular PLP homeostasis is still unknown. To address this gap of knowledge, we performed a detailed analysis of consequences of PLPHP deficiency on vitamin B 6 metabolism in human fibroblasts and HEK293 cells.…”