Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine.
We present a female infant with seizures responsive to pyridoxal phosphate but that are resistant to pyridoxine. The mechanism by which pyridoxal phosphate controls seizures in this patient is unknown. Her seizures are perhaps not solely caused by pyridoxal phosphate deficiency. It is suggested that in addition to glutamic acid decarboxylase abnormality, the path from the absorption, transportation, phosphorylation, and oxidation of pyridoxine to pyridoxal phosphate in this patient might be defective. It should be considered whether pyridoxal phosphate can be the drug of choice instead of pyridoxine in treating patients suspected of pyridoxine-dependent epilepsy to reduce failure rate and further delay in seizure control.
Kuo
Meng-Fai
MF
Division of Pediatric Neurosurgery, Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan.
Wang
Huei-Shyong
HS
D000284:Administration, Oral; D004569:Electroencephalography / Q000187:drug effects*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000188:drug therapy*; D007262:Infusions, Intravenous; D011732:Pyridoxal Phosphate / Q000008:administration & dosage*; D011736:Pyridoxine / Q000008:administration & dosage*; D013036:Spasms, Infantile / Q000188:drug therapy*; D017211:Treatment Failure
D011732:Pyridoxal Phosphate; D011736:Pyridoxine