Disease

Vitamin B6-dependent epilepsy1, 2

Gene

PLPBP

Inheritance AR
Current Treatments vitamin B6 (pyridoxine), lysine restrict and suppl arginine
Evidence for Treatment expert opinion
Non-Molecular Testing Availability no
Non-Molecular Test
Disease Frequency (per 100,000) 2.5653
Genes Included in Disease Frequency ALDH7A1, PLPBP, PNPO
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=plpbp&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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