Literature DB >> 18563632

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

F Sedel1, J-M Saudubray, E Roze, Y Agid, M Vidailhet.   

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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Year:  2008        PMID： 18563632     DOI： 10.1007/s10545-008-0854-5

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.750


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