Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease
Identifieur interne : 000251 ( Pmc/Checkpoint ); précédent : 000250; suivant : 000252Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease
Auteurs : Miryam Carecchio [Royaume-Uni, Italie] ; Susanne A. Schneider [Royaume-Uni, Allemagne] ; Heidi Chan [Royaume-Uni] ; Robin Lachmann [Royaume-Uni] ; Philip J. Lee [Royaume-Uni] ; Elaine Murphy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2011.
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.
Url:
DOI: 10.1002/mds.23629
PubMed: 21484869
PubMed Central: 4235248
Affiliations:
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<front><div type="abstract" xml:lang="en"><p id="P1">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.</p>
</div>
</front>
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<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
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<title-group><article-title>Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Carecchio</surname>
<given-names>Miryam</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
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<contrib contrib-type="author"><name><surname>Schneider</surname>
<given-names>Susanne A.</given-names>
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<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A3">3</xref>
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<contrib contrib-type="author"><name><surname>Chan</surname>
<given-names>Heidi</given-names>
</name>
<degrees>BSc</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lachmann</surname>
<given-names>Robin</given-names>
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<degrees>MRCP, PhD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
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<contrib contrib-type="author"><name><surname>Lee</surname>
<given-names>Philip J.</given-names>
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<contrib contrib-type="author"><name><surname>Murphy</surname>
<given-names>Elaine</given-names>
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<xref ref-type="aff" rid="A4">4</xref>
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<contrib contrib-type="author"><name><surname>Bhatia</surname>
<given-names>Kailash P.</given-names>
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<aff id="A1"><label>1</label>
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom</aff>
<aff id="A2"><label>2</label>
Department of Neurology, Amedeo Avogadro University, Novara, Italy</aff>
<aff id="A3"><label>3</label>
Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Luebeck, Germany</aff>
<aff id="A4"><label>4</label>
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom</aff>
<author-notes><corresp id="CR1"><label>*</label>
Correspondence to: Prof. Kailash P. Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom; <email>k.bhatia@ion.ucl.ac.uk</email>
</corresp>
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<pub-date pub-type="nihms-submitted"><day>13</day>
<month>11</month>
<year>2014</year>
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<pub-date pub-type="epub"><day>11</day>
<month>4</month>
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<pub-date pub-type="ppub"><month>6</month>
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<pub-date pub-type="pmc-release"><day>18</day>
<month>11</month>
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<volume>26</volume>
<issue>7</issue>
<fpage>1324</fpage>
<lpage>1328</lpage>
<pmc-comment>elocation-id from pubmed: 10.1002/mds.23629</pmc-comment>
<permissions><copyright-statement>© 2011 <italic>Movement</italic>
Disorder Society</copyright-statement>
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<abstract><p id="P1">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.</p>
</abstract>
<kwd-group><kwd>maple syrup urine disease</kwd>
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