• Open Access

Movement disorders in adult surviving patients with maple syrup urine disease

Authors

  • Miryam Carecchio MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom
    2. Department of Neurology, Amedeo Avogadro University, Novara, Italy
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  • Susanne A. Schneider MD, PhD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom
    2. Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany
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  • Heidi Chan BSc,

    1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
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  • Robin Lachmann MRCP, PhD,

    1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
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  • Philip J. Lee MD, FRCP,

    1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
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  • Elaine Murphy MRCP, FRCPath,

    1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
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  • Kailash P. Bhatia MD, FRCP

    Corresponding author
    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom
    • Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom

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  • Funding agencies: This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres' funding scheme. Relevant conflicts of interest/financial disclosures: Nothing to report.

    Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched-chain α-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. © 2011 Movement Disorder Society

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