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

Abstract

Vitamin B6-dependent epilepsy due to <i>PLPBP</i> defect is an important differential diagnosis to consider in patients with biochemical features suggestive of pyridoxamine 5'-phosphate Oxidase (<i>PNPO</i>) defect and gene testing can facilitate in reaching the correct diagnosis. Prompt diagnosis and treatment led to excellent seizure control in most patients.