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Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease

Carecchio, M; Schneider, SA; Chan, H; Lachmann, R; Lee, PJ; Murphy, E; Bhatia, KP; (2011) Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease. MOVEMENT DISORD , 26 (7) 1324 - 1328. 10.1002/mds.23629. Green open access

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Abstract

Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched-chain alpha-keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched-chain 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-dystonic 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. (C) 2011 Movement Disorder Society

Type: Article
Title: Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/mds.23629
Publisher version: http://dx.doi.org/10.1002/mds.23629
Additional information: © 2011 Movement Disorder Society. Full text made available to UCL Discovery by kind permission of Wiley.
Keywords: maple syrup urine disease, metabolic, movement disorders, dystonia, parkinsonism, BRANCHED-CHAIN KETOACIDURIA, VARIANT, STIMULATION, INVOLVEMENT
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/1315518
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