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.
Movement disorders in adult surviving patients with maple syrup urine disease†
Article first published online: 11 APR 2011
Copyright © 2011 Movement Disorder Society
Volume 26, Issue 7, pages 1324–1328, June 2011
How to Cite
Carecchio, M., Schneider, S. A., Chan, H., Lachmann, R., Lee, P. J., Murphy, E. and Bhatia, K. P. (2011), Movement disorders in adult surviving patients with maple syrup urine disease. Mov. Disord., 26: 1324–1328. doi: 10.1002/mds.23629
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 20 JUN 2011
- Article first published online: 11 APR 2011
- Manuscript Accepted: 10 DEC 2010
- Manuscript Revised: 6 DEC 2010
- Manuscript Received: 21 OCT 2010
- maple syrup urine disease;
- movement disorders;
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