{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T15:26:52Z","timestamp":1792682812170,"version":"4.5.0"},"reference-count":306,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:00:00Z","timestamp":1780444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:00:00Z","timestamp":1780444800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high\u2010quality data, expert consensus was additionally obtained through a modified Delphi process. Remethylation disorders are rare inherited conditions that disrupt the methionine\u2013homocysteine cycle and consecutively impair essential methylation dependent metabolic pathways. Remethylation disorders are caused by defects in the cobalamin or folate metabolism. The disorders typically result in elevated homocysteine and often low methionine; combined cobalamin\u2010related defects also affect mitochondrial methylmalonic acid clearance. The cblC\u2010\n                    <jats:italic>MMACHC<\/jats:italic>\n                    defect is the most common cobalamin\u2010related remethylation disorder. Early\u2010onset patients usually present with severe neurological and eye symptoms. Late\u2010onset cases show variable symptoms (e.g., psychiatric, renal, thromboembolic events). Plasma total homocysteine, methionine, methylmalonic acid, serum vitamin B12 (and folates) should be assessed in suspected cases. Early detection through newborn screening is associated with improved clinical outcomes. Betaine as first\u2010line therapy for methylenetetrahydrofolate reductase deficiency and parenteral hydroxocobalamin for cobalamin\u2010related defects have reduced mortality and morbidity. Total homocysteine, methionine (and methylmalonic acid) should be kept as close to normal values as achievable. Emerging evidence suggests that early use of high\u2010dose hydroxocobalamin (&gt;\u20090.35\u2009mg\/kg\/day) may improve neurocognitive impairment and may ameliorate eye disease in severe cobalamin\u2010related defects. A major limitation in current practice is the lack of availability of high concentration hydroxocobalamin formulations for parenteral administration.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70177","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:10:21Z","timestamp":1780470621000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders"],"prefix":"10.1002","volume":"49","author":[{"given":"Giorgia","family":"Olivieri","sequence":"first","affiliation":[{"name":"Division of Metabolic Diseases and Hepatology Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bordugo","sequence":"additional","affiliation":[{"name":"Metabolic and Syndromic Diseases Unit, Regional Coordinating Centre for Rare Diseases. 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