title: Movement disorders in adult surviving patients with maple syrup urine disease.
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.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, United Kingdom.
authors.forename: Miryam
authors.initials: M
authors.lastname: Carecchio
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Heidi
authors.initials: H
authors.lastname: Chan
authors.forename: Robin
authors.initials: R
authors.lastname: Lachmann
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Lee
authors.forename: Elaine
authors.initials: E
authors.lastname: Murphy
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D004421:Dystonia / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D008297:Male; D008375:Maple Syrup Urine Disease / Q000453:epidemiology*; D001523:Mental Disorders / Q000175:diagnosis / Q000453:epidemiology; D008875:Middle Aged; D009069:Movement Disorders / Q000175:diagnosis / Q000453:epidemiology*; D009460:Neurologic Examination; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000453:epidemiology; D015995:Prevalence; D017741:Survivors / Q000706:statistics & numerical data*; D014202:Tremor / Q000175:diagnosis / Q000453:epidemiology; D055815:Young Adult