Your browser doesn't support javascript.
loading
Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.
Dixon, Marjorie; Millington, Chloe; Bernstein, Laurie; Coughlin, Curtis R; Drumm, Morgan; Gaughan, Sommer; van Karnebeek, Clara D M; van Wegberg, Annemiek M J.
Afiliación
  • Dixon M; Dietetics Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK.
  • Millington C; Dietetics Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK.
  • Bernstein L; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA.
  • Coughlin CR; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA.
  • Drumm M; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA.
  • Gaughan S; Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado USA.
  • van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam Gastroenterology Endocrinology and Metabolism Amsterdam Univeristy Medical Center Amsterdam The Netherlands.
  • van Wegberg AMJ; Department of Gastroenterology and Hepatology-Dietetics Radboud University Medical Center Nijmegen The Netherlands.
JIMD Rep ; 65(3): 188-203, 2024 May.
Article en En | MEDLINE | ID: mdl-38736635
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.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos