Pyridoxine-dependent epilepsy

Orpha code: 3006OMIM code: 266100

Definition

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).

Disease data
Classification

Disease

Synonyms
Antiquitin deficiency
Napady padaczkowe zależne od witaminy B6
Niedobór antykwityny
Vitamin B6-dependent seizures
ORPHA code
3006
OMIM code
266100
ICD10 code
G40.8
ICD11 code
8A61.0Y

No additional description.

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