Abstract Pyridoxamine‐5′‐phosphate oxidase (PNPO) deficiency is an autosomal
recessive pyridoxal 5′‐phosphate (PLP)‐vitamin‐responsive epileptic encephalopathy …

Background: Vitamin B6-dependent epilepsies include treatable diseases responding to
pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding …

The first described patients with pyridox (am) ine 5'-phosphate oxidase deficiency all had
neonatal onset seizures that did not respond to treatment with pyridoxine but responded to …

Objective: To determine whether patients with pyridoxine-responsive seizures but normal
biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have …

Commercially-reared bumblebees provide an important pollinator service that helps support
food production and security. The deployment of an appropriate non-thermal disinfection …

Defects of vitamin B6 metabolism are responsible for severe neurological disorders, such as
pyridoxamine 5′-phosphate oxidase deficiency (PNPOD; OMIM: 610090), an autosomal …

Epilepsy is an etiologically heterogeneous condition; however, genetic factors are thought to
play a role in most patients. For those with infantile-onset developmental and epileptic …

Abstract Background Pyridoxal-5′-phosphate oxidase (PNPO) deficiency presents as a
severe neonatal encephalopathy responsive to pyridoxal-5′-phosphate (PLP) or …

We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to
pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also …

Pyridox (am) ine-5-phosphate oxidase deficiency is an autosomal recessive disorder of
pyridoxine metabolism. Intractable neonatal epileptic encephalopathy is the classical …