Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Curtis R. Coughlin, Laura A. Tseng, Jose E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhas, Peter T. Clayton, Anibh Das, Hanka Dekker, Athanasios Evangeliou, François Feillet, Emma J. Footitt, Sidney M. Gospe, Hans Hartmann, Majdi Kara, Erle Kristensen, Joy Lee, Rina LiljeNicola Longo, Roelineke J. Lunsing, Philippa Mills, Maria T. Papadopoulou, Phillip L. Pearl, Flavia Piazzon, Barbara Plecko, Arushi G. Saini, Saikat Santra, Damayanti R. Sjarif, Sylvia Stockler-Ipsiroglu, Pasquale Striano, Johan L.K. Van Hove, Nanda M. Verhoeven-Duif, Frits A. Wijburg, Sameer M. Zuberi, Clara D.M. van Karnebeek

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
JournalJournal of Inherited Metabolic Disease
DOIs
Publication statusAccepted/In press - 2020

Keywords

  • ALDH7A1
  • alpha aminoadipic semialdehyde
  • consensus guidelines
  • pyridoxine-dependent epilepsy
  • pyridoxine-responsive seizures

Fingerprint Dive into the research topics of 'Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency'. Together they form a unique fingerprint.

Cite this