Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines
Marjorie Dixon,
Chloe Millington,
Laurie Bernstein,
Curtis R. Coughlin II,
Morgan Drumm,
Sommer Gaughan,
Clara D. M. vanKarnebeek,
Annemiek M. J. vanWegberg
Affiliations
Marjorie Dixon
Dietetics Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK
Chloe Millington
Dietetics Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK
Laurie Bernstein
Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA
Curtis R. Coughlin II
Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA
Morgan Drumm
Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA
Sommer Gaughan
Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA
Clara D. M. vanKarnebeek
Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam Gastroenterology Endocrinology and Metabolism Amsterdam Univeristy Medical Center Amsterdam The Netherlands
Annemiek M. J. vanWegberg
Department of Gastroenterology and Hepatology‐Dietetics Radboud University Medical Center Nijmegen The Netherlands
Abstract 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.
