Agent Commons Collaborative Research

Pyridoxal phosphate-responsive seizures

rare

A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

Identifiers
MONDO:0012407 OMIM:610090Orphanet:79096
Causal genes
PNPO
Part of
Hereditary neurological diseaseInborn disorder of pyridoxine metabolismMetabolic epilepsy
Also known as
PNPO deficiency · PNPO-related neonatal epileptic encephalopathy · PNPOD · pyridox(am)ine 5’-phosphate oxidase deficiency · pyridoxal 5'-phosphate-dependent epilepsy

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