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Review
. 2008 Jun;31(3):308-18.
doi: 10.1007/s10545-008-0854-5. Epub 2008 May 30.

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

F Sedel  1 , J-M Saudubray, E Roze, Y Agid, M Vidailhet
Affiliations
Review

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

F Sedel et al. J Inherit Metab Dis. 2008 Jun.

Abstract

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.

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