Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature.

ABSTRACT:

Introduction

The Vitamin B6-dependent epilepsies are a heterogeneous group of autosomal recessive disorders usually characterized by neonatal onset seizures responsive to treatment with vitamin B6 available as pyridoxine (PN) or as the biologically active form pyridoxal 5-phosphate (PLP). The vitamin B6-dependent epilepsies are caused by mutations in at least five different genes involved in B6 metabolism. A literature review revealed that only 30 patients with vitamin B6-dependent epilepsy caused by PLPBP mutation have been reported worldwide.

Presentation of case

We report a case of baby boy born to first-cousin Pakistani parents who presented with generalized as well as focal seizures starting a few hours after birth and responsive to PLP. Whole exome sequencing re

SUBMITTER: Ahmed S 

PROVIDER: S-EPMC7779953 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature