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Abstract
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene.
Highlights
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene
Testing for PNPO mutations is important in pyridoxine-responsive patients with normal biomarkers for antiquitin deficiency or other B6-dependent neonatal epilepsies
The challenge of recognizing a delayed pyridoxine effect and lack of specific biomarkers caries a risk of misdiagnosis
Summary
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene. Eleven patients from 7 families carried 3 novel mutations of the PNPO gene. Response to pyridoxine was prompt in 4 patients, delayed in 2, on EEG only in 2, and initially absent in another 2 patients. Earlier and continuous pyridoxine therapy was related to a better prognosis.
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