Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 308–318 | Cite as

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

  • F. Sedel
  • J.-M. Saudubray
  • E. Roze
  • Y. Agid
  • M. Vidailhet


Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism disorders and lysosomal storage diseases. IEMs should not be missed as many are treatable. Here we briefly review IEMs causing movement disorders in adolescence and adults and propose a simple diagnostic approach to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities.


Dystonia Movement Disorder Gauche Disease Leigh Syndrome Gangliosidosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • F. Sedel
    • 1
    • 2
    • 3
  • J.-M. Saudubray
    • 4
    • 5
  • E. Roze
    • 1
    • 6
  • Y. Agid
    • 1
    • 7
  • M. Vidailhet
    • 1
    • 7
  1. 1.Federation of Nervous System DiseasesSalpêtrière HospitalParisFrance
  2. 2.Neurometabolic Unit, Federation of Nervous System Diseases, and Reference Center for Lysosomal DiseasesSalpêtrière HospitalParis cedex 13France
  3. 3.Reference Center for Lysosomal DiseasesSalpêtrière HospitalParisFrance
  4. 4.National Reference Center for Metabolic DiseasesNecker Enfants Malades Hospital, Assistance Publique-Hôpitaux de ParisParisFrance
  5. 5.Université Paris Descartes (Paris V)ParisFrance
  6. 6.INSERM U-711, Université Pierre et Marie Curie (Paris VI)ParisFrance
  7. 7.INSERM U679, Salpêtrière Hospital, Université Pierre et Marie Curie (Paris VI)ParisFrance

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