Pyridoxal phosphate-responsive seizures

MONDO:0012407

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.

Also known as: PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, pyridox(am)ine 5’-phosphate oxidase deficiency, pyridoxal phosphate-dependent seizures, pyridoxamine 5'-phosphate oxidase deficiency, pyridoxine 5' phosphate oxidase deficiency, PNPOD, Pnpo deficiency

9 clinical trials for this condition and its sub-types, 2 tagged with Pyridoxal phosphate-responsive seizures itself.

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↑ Hereditary neurological disease (5791) ↑ Metabolic epilepsy (8) ↑ Inborn disorder of pyridoxine metabolism (4)

Including sub-types (9) Tagged with Pyridoxal phosphate-responsive seizures (2)

Trials to join now! 1 Not yet finished but already full! 1

New hope for kids with rare seizure disorder: vitamin B6 therapy in final testing phase

Disease control Recruiting now

This study tests an oral form of pyridoxal 5'-phosphate (P5P), a vitamin B6 derivative, for people with a rare genetic condition called PNPO deficiency. The condition causes hard-to-control seizures. The study will enroll 15 patients aged 2 years and older who already take P5P to…

Phase 3 • Sponsor: Medicure • Aim: Disease control

Last updated Jun 27, 2026 07:54 UTC

Pyridoxal phosphate-responsive seizures

Where it sits in the disease tree

New hope for kids with rare seizure disorder: vitamin B6 therapy in final testing phase