Early-onset vitamin B₆-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.

ABSTRACT: Vitamin B₆-dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal-5'-phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these disorders, biallelic pathogenic variants in PLPBP have been shown to cause a form of early onset vitamin B₆-dependent epilepsy (EPVB6D). PLPBP is thought to play a role in the homeostatic regulation of vitamin B₆, by supplying PLP to apoenzymes while limiting side-reaction toxicity related to excess unbound PLP. Neonatal-onset intractable seizures that respond to pyridoxine and/or PLP are a predominant feature of EPVB6D in humans. Unlike other causes of vitamin B₆-dependent epilepsie

SUBMITTER: Heath O 

PROVIDER: S-EPMC7932866 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature