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J Inherit Metab Dis. 2008 Jun;31(3):295-307. doi: 10.1007/s10545-008-0778-0. Epub 2008 Feb 25.

Leukoencephalopathies associated with inborn errors of metabolism in adults.

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  • 1Federation of Nervous System Diseases, Hôpital de la Salpêtrière and Université Pierre et Marie Curie (Paris VI), Assistance Publique-Hôpitaux de Paris, Paris, France.


The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and genetic diseases including inborn errors of metabolism (IEMs). It is now clear that IEMs can have their clinical onset from early infancy until late adulthood. These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs.

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