Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines

Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management. In this follow‐on, a literature review was performed and nutrition management w...

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Bibliographic Details
Published in:JIMD reports 2024-05, Vol.65 (3), p.188-203
Main Authors: Dixon, Marjorie, Millington, Chloe, Bernstein, Laurie, Coughlin, Curtis R., Drumm, Morgan, Gaughan, Sommer, Karnebeek, Clara D. M., Wegberg, Annemiek M. J.
Format: Article
Language:English
Subjects:
Biomarkers
Consortia
Convulsions & seizures
Dehydrogenases
Diet
Dietary restrictions
Dietitians
Epilepsy
lysine
management
Medical screening
Metabolism
Metabolites
Patients
PDE‐ALDH7A1
pyridoxine‐dependent epilepsy
Questionnaires
Research Report
Research Reports
Siblings
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Description
Summary:Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management. In this follow‐on, a literature review was performed and nutrition management was evaluated through an international dietary questionnaire with 40 respondents. This manuscript discusses consensus dietary statements and the practical provision of lysine reduction therapies. Results from the questionnaire, statements from the PDE consensus guidelines, new data from the literature, as well as clinical practice experience of the metabolic dietitian group form the basis of these updated practical diet recommendations. These dietary management recommendations can support dietitians, nutritionists, and physicians in initiation and monitoring of lysine reduction therapies for PDE‐ALDH7A1 patients and families.
ISSN:2192-8312
2192-8304
2192-8312
DOI:10.1002/jmd2.12418