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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
Author(s) -
Coughlin Curtis R.,
Tseng Laura A.,
Abdenur Jose E.,
Ashmore Catherine,
Boemer François,
Bok Levinus A.,
Boyer Monica,
Buhas Daniela,
Clayton Peter T.,
Das Anibh,
Dekker Hanka,
Evangeliou Athanasios,
Feillet François,
Footitt Emma J.,
Gospe Sidney M.,
Hartmann Hans,
Kara Majdi,
Kristensen Erle,
Lee Joy,
Lilje Rina,
Longo Nicola,
Lunsing Roelineke J.,
Mills Philippa,
Papadopoulou Maria T.,
Pearl Phillip L.,
Piazzon Flavia,
Plecko Barbara,
Saini Arushi G.,
Santra Saikat,
Sjarif Damayanti R.,
StocklerIpsiroglu Sylvia,
Striano Pasquale,
Van Hove Johan L.K.,
VerhoevenDuif Nanda M.,
Wijburg Frits A.,
Zuberi Sameer M.,
Karnebeek Clara D.M.
Publication year - 2021
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12332
Subject(s) - medicine , epilepsy , pyridoxine , pharmacology , pediatrics , psychiatry
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is an autosomal recessive condition due to a deficiency of α‐aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE‐ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE‐ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine‐restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine‐reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re‐evaluate and update the two previously published recommendations for diagnosis, treatment, and follow‐up of patients with PDE‐ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus‐based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE‐ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE‐ALDH7A1 are provided.