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Recognising pyridox(am)ine 5'-phosphate oxidase deficiency

Is pyridox(am)ine 5'-phosphate oxidase deficiency, an eminently treatable cause of epilepsy, under-recognised in children?

Project aim

Improve diagnosis and treatmentof children with pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency by using a novel rapid screening dry blood spot assay.

What this means

The research team has developed a new, quick test to check if someone has an epilepsy disorder called pyridox(am)ine 5'-phosphate oxidase deficiency (PNPO) which responds to treatment with vitamin B6. We want to see how employing this test in clinical practice improves the diagnosis and treatment of children with PNPO as it is often overlooked. Early detection and treatment with vitamin B6 will help to prevent disability. We also hope this study may uncover other causes of epilepsy which may benefit from vitamin B6 treatment.

Update

This project has been granted ethical approval and an application for funding to Action Medical Research has been submitted.

Investigators

Peter Clayton, Philippa Mills, Helen Cross, Ronit Pressler.

Cyber EssentialsFundraising RegulatorYoung Epilepsy is the operating name of The National Centre for Young People with Epilepsy (NCYPE).
Registered Charity number 311877 (England and Wales)

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