Pyridox(am)ine-5'-phosphate oxidase deficiency:A case report and literature review
SHEN Lei-lei
WAN Shao-you
CHEN Sheng
Abstract：The clinical data of a child with Pyridox(am)ine-5'-phosphate oxidase(PNPO)deficiency admitted to the First Affiliated Hospital of Army Medical University in August 2022 were retrospectively analyzed,and relevant literature was retrieved and reviewed.The child was a male with a gestational age of 34 weeks 4 days,and presented with refractory convulsion with myoclonic seizures in less than 24 hours after birth,with the electroencephalogram showing a violently inhibitory pattern,and the presence of a compound heterozygous variant of the PNPO gene was confirmed by genetic analysis:c.448_451del paternal origin and c.558_561del maternal origin.For early neonatal seizures with poor outcome on conventional antiepileptic therapy,the possibility of the disease should be considered,and confirmation of the diagnosis relies on genetic testing.
Keywords：pyridox(am)ine-5'-phosphate oxidase deficiencypyridoxal-5'-phosphatePNPO geneintractable epilepsy
Publication Date：2024-10-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 796-800 )