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Of the three branched-chain amino acids (leucine, valine, and isoleucine), accumulation of leucine is the predominant factor causing acute metabolic decompensation in patients with MSUD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main body<\/jats:title>\n                    <jats:p>In February 2025, eight expert physicians met to discuss the management of acute metabolic decompensation and propose recommendations after literature review (four guidelines and 20 other articles of interest). A practical clinical algorithm was established. Newborn screening was acknowledged to be a successful method of diagnosing MSUD at birth, facilitating early intervention to prospectively manage MSUD and reduce the frequency and severity of acute metabolic decompensation, although it was noted that infants with severe MSUD often present with acute metabolic decompensation before being diagnosed. The experts also identified several barriers to and gaps in the management of acute metabolic decompensation, and MSUD more generally, proposing potential actions to improve clinical outcomes. Acute metabolic decompensation requires prompt, effective treatment by a multidisciplinary team to ensure that circulating plasma leucine levels are rapidly reduced without causing complications (particularly cerebral edema). Where available, intravenous branched chain amino acid-free solutions (e.g., Maapliv, now approved in Europe) may represent an important treatment option. Adequate resources (treatments, laboratory services, dialysis units) are essential for effective management of acute metabolic decompensation. Liver transplantation is an accepted viable option for the long-term prevention of acute metabolic decompensation in eligible patients. Research is ongoing into new treatment options for MSUD, such as gene therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Optimal management of acute metabolic decompensation in patients with MSUD requires prompt, effective treatment to reduce leucine levels without causing complications. A ready-to-use branched chain amino acid-free intravenous solution has been recently approved in Europe and research into new treatment options is ongoing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04418-y","type":"journal-article","created":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T15:54:28Z","timestamp":1780761268000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8165-8212","authenticated-orcid":false,"given":"Aude","family":"Servais","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0328-2384","authenticated-orcid":false,"given":"Marie Therese","family":"Abi-Ward\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1826-2810","authenticated-orcid":false,"given":"Jean-Baptiste","family":"Arnoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-137X","authenticated-orcid":false,"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8717-469X","authenticated-orcid":false,"given":"Francois","family":"Feillet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4319-0330","authenticated-orcid":false,"given":"Vincenzo","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3677-1216","authenticated-orcid":false,"given":"Nicola","family":"Longo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4417-4876","authenticated-orcid":false,"given":"Sufin","family":"Yap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,6]]},"reference":[{"key":"4418_CR1","doi-asserted-by":"publisher","first-page":"e64037","DOI":"10.1002\/ajmg.a.64037","volume":"197","author":"M K\u0131l\u0131\u00e7","year":"2025","unstructured":"K\u0131l\u0131\u00e7 M, Sayar E, \u0130cil S, et al. 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Available from: https:\/\/ec.europa.eu\/health\/documents\/community-register\/2025\/20250728166575\/anx_166575_en.pdf"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04418-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04418-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04418-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T22:54:52Z","timestamp":1786575292000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-026-04418-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,6]]},"references-count":53,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4418"],"URL":"https:\/\/doi.org\/10.1186\/s13023-026-04418-y","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,6]]},"assertion":[{"value":"23 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"A.S. has received speaker fees from Chiesi Farmaceutici and Recordati Rare Diseases. M.T.A.-W. has received speaker fees from Sanofi; support for attending meetings and\/or travel from BioMarin Pharmaceutical, Nutricia International\/Danone, PTC Therapeutics, Chiesi Farmaceutici, UCB, and Jazz Pharmaceuticals; and participated on a data safety monitoring or advisory boards for Sanofi and Zevra Therapeutics. J.-B.A. has received speaker fees from Immedica Pharma, PTC Therapeutics, and Vitaflo; support for attending meetings and\/or travel from PTC Therapeutics and Immedica Pharma; and participated on a data safety monitoring or advisory boards for Zealand Pharma and PTC Therapeutics. F.F. has received a research grant, speaker fees, and support for attending meetings and\/or travel from Recordati Rare Diseases. V.G. is an employee of Recordati Rare Diseases. N.L. has received research grants or contracts from Amicus Therapeutics, Astellas, BioMarin Pharmaceutical, Chiesi Farmaceutici, Genzyme\/Sanofi, iECure, Jaguar Gene Therapy, Maze Therapeutics, Moderna, Otsuka Pharmaceutical\/Jnana Therapeutics, PTC Therapeutics, Spark Therapeutics, Ultragenyx, and UniQure; consulting fees from Amicus Therapeutics, Astellas, BioMarin Pharmaceutical, Chiesi Farmaceutici, Genzyme\/Sanofi, Jaguar Gene Therapy, Maze Therapeutics, Moderna, Otsuka Pharmaceutical\/Jnana Therapeutics, PTC Therapeutics, and Ultragenyx; speaker fees from Chiesi Farmaceutici; and support for attending meetings and\/or travel from Astellas, Chiesi Farmaceutici, Genzyme\/Sanofi, Otsuka Pharmaceutical\/Jnana Therapeutics, and PTC Therapeutics. A.B. and S.Y. declare that they have no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"279"}}