{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:54:47Z","timestamp":1762005287835,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,3,6]],"date-time":"2021-03-06T00:00:00Z","timestamp":1614988800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein\u2010restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain amino acid (BCAA)\u2010free formula to reduce leucine levels. This retrospective observational study of 126 decompensation episodes from 54 MSUD patients treated at five centers in France and Germany from 2010 to 2016, describes episodes and outcomes for patients stratified into groups who received enteral\/oral or intravenous (IV) BCAA\u2010free formula, and by pediatric or adult age categories. IV administration of BCAA\u2010free formula was required in cases of gastric intolerance (33%), refusal to undergo nasogastric tubing (31%), \u201cemergency\u201d (14%) or coma patients (8%), and as prophylaxis before surgery (6%). Overall, mean duration of hospitalization was 6.6\u2009days with oral\/enteral BCAA\u2010free formula and 5.4\u2009days with IV formula. Leucine levels at discharge decreased by a mean of 548.5\u00a0\u03bcmol\/L (69.3%) in the oral\/enteral group and 657.2\u00a0\u03bcmol\/L (71.3%) in the IV group. In the pediatric subgroup, there were no marked differences between administration groups on any outcome. In the adult subgroup, mean time to episode resolution was 15.8\u2009days in the oral\/enteral group and 7.7\u2009days in the IV group (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.008); mean duration of hospitalization was 6\u2009days in the oral\/enteral group and 4.6\u2009days in the IV group (<jats:italic>P<\/jats:italic>\u00a0=\u00a0NS). Overall, seven serious adverse events in two patients were reported, of which only nausea and vomiting were treatment related.<\/jats:p>","DOI":"10.1002\/jmd2.12207","type":"journal-article","created":{"date-parts":[[2021,3,6]],"date-time":"2021-03-06T09:54:03Z","timestamp":1615024443000},"page":"110-119","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Real\u2010world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid<scp>\u2010free<\/scp> formulas in France and Germany: A retrospective observational study"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2971-726X","authenticated-orcid":false,"given":"Pascale","family":"de Lonlay","sequence":"first","affiliation":[{"name":"Service et Centre de R\u00e9f\u00e9rence des maladies m\u00e9taboliques H\u00f4pital Necker \u2013 Enfants Malades, APHP, Universit\u00e9 de Paris, 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