{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:59:18Z","timestamp":1791892758108,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T00:00:00Z","timestamp":1302480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched\u2010chain \u03b1\u2010keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched\u2010chain amino acids leucine, isoleucine, and valine and the corresponding ketoacids. Movement disorders in maple syrup urine disease have typically been described during decompensation episodes or at presentation in the context of a toxic encephalopathy, with complete resolution after appropriate dietary treatment. Movement disorders in patients surviving childhood are not well documented. We assessed 17 adult patients with maple syrup urine disease (mean age, 27.5 years) with a special focus on movement disorders. Twelve (70.6%) had a movement disorder on clinical examination, mainly tremor and dystonia or a combination of both. Parkinsonism and simple motor tics were also observed. Pyramidal signs were present in 11 patients (64.7%), and a spastic\u2010dystonic gait was observed in 6 patients (35.2%). In summary, movement disorders are common in treated adult patients with maple syrup urine disease, and careful neurological examination is advisable to identify those who may benefit from specific therapy. \u00a9 2011 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23629","type":"journal-article","created":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T10:32:00Z","timestamp":1302517920000},"page":"1324-1328","source":"Crossref","is-referenced-by-count":43,"title":["Movement disorders in adult surviving patients with maple syrup urine disease"],"prefix":"10.1002","volume":"26","author":[{"given":"Miryam","family":"Carecchio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Lachmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,4,11]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"1971","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chuang DT","year":"2001"},{"key":"e_1_2_7_3_2","first-page":"139A","article-title":"Maple Syrup urine disease in the old order Mennonites","volume":"33","author":"Marshall L","year":"1981","journal-title":"Am J Hum Gen."},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0276-1"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.6.999"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.12.918"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2009.11.005"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0223-1"},{"key":"e_1_2_7_9_2","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1542\/peds.28.6.918","article-title":"Clinical and biochemical observations on an apparently nonfatal variant of branched\u2010chain ketoaciduria (maple syrup urine disease)","volume":"28","author":"Morris MD","year":"1961","journal-title":"Pediatrics."},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20288"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050597"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1964.tb07789.x"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0082(98)00041-0"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp024"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg142"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.155861"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21723"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2003.98.2.0414"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23629","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23629","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23629","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:29:54Z","timestamp":1760959794000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23629"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,4,11]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["10.1002\/mds.23629"],"URL":"https:\/\/doi.org\/10.1002\/mds.23629","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,4,11]]}}}