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PDE\u2010ALDH7A1 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\u2010ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine\u2010restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine\u2010reduction 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\u2010evaluate and update the two previously published recommendations for diagnosis, treatment, and follow\u2010up of patients with PDE\u2010ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus\u2010based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE\u2010ALDH7A1. 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\u2010ALDH7A1 are provided.<\/jats:p>","DOI":"10.1002\/jimd.12332","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T07:47:25Z","timestamp":1605599245000},"page":"178-192","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":113,"title":["Consensus guidelines for the diagnosis and management of pyridoxine\u2010dependent epilepsy due to \u03b1\u2010aminoadipic semialdehyde dehydrogenase deficiency"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3545-7903","authenticated-orcid":false,"suffix":"II","given":"Curtis R.","family":"Coughlin","sequence":"first","affiliation":[{"name":"Section of Clinical Genetics and Metabolism, Department of Pediatrics University of Colorado Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura 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