pyridoxine-dependent epilepsy true pyridoxine dependency pyridoxine dependency with seizures ICD10:G40.8 GARD:0009298 pyridoxine-dependent epilepsy SCTID:734434007 Pyridoxine-dependent epilepsy (PDE) is 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). epilepsy, pyridoxine-dependent; Epd In pyridoxine dependent epilepsy, there is a defect in α-aminoadipic semialdehyde (AASA) dehydrogenase, with accumulation of products that inactivate pyridoxal-5-phosphate (PLP). Biochemical markers include increased AASA (specific) and pipecolic acid (non specific) in urine, plasma and CSF (even on treatment). The diagnosis is supported by finding a mutation in the antiquitin gene (ALDH7A1, chromosome 5q31). In pyridoxine 5' phosphate oxidase (PNPO) deficiency, biochemical markers may be unhelpful with only subtle findings. Pyridoxine supplementation is ineffective, the patients require PLP to ameliorate the neurological condition. MONDO:0009945 UMLS:C1849508 EPD UMLS:CN203406 antiquitin deficiency vitamin B6-dependent seizures epilepsy, pyridoxine-dependent AASA dehydrogenase deficiency Orphanet:3006 MESH:C536254 metabolic etiology