Pyridoxine-dependent epilepsy

MONDO:0009945

A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

Also known as: antiquitin deficiency, pyridoxine-dependent epilepsy, vitamin B6-dependent seizures, AASA dehydrogenase deficiency, EPD, Epd, epilepsy, pyridoxine-dependent, pyridoxine dependency

10 clinical trials for this condition and its sub-types, 3 tagged with Pyridoxine-dependent epilepsy itself.

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Where it sits in the disease tree

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Part of

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

Sub-types of Pyridoxine-dependent epilepsy

Epilepsy, early-onset, vitamin B6-dependent 1 trial
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 0 trials

Including sub-types (10) Tagged with Pyridoxine-dependent epilepsy (3)

Not yet finished but already full! 1 Completed 2

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Pyridoxine-dependent epilepsy

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth