Leukoencephalopathies associated with inborn errors of metabolism in adults

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


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.

Publication types

  • Review

MeSH terms

  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / etiology
  • Brain Diseases, Metabolic, Inborn / diagnosis
  • Brain Diseases, Metabolic, Inborn / etiology*
  • Electron Transport
  • Hereditary Central Nervous System Demyelinating Diseases / diagnosis
  • Hereditary Central Nervous System Demyelinating Diseases / etiology*
  • Homocysteine / metabolism
  • Humans
  • Leukodystrophy, Globoid Cell / diagnosis
  • Leukodystrophy, Globoid Cell / etiology
  • Leukodystrophy, Metachromatic / diagnosis
  • Leukodystrophy, Metachromatic / etiology
  • Magnetic Resonance Imaging
  • Phenylketonurias / diagnosis
  • Phenylketonurias / etiology
  • Xanthomatosis, Cerebrotendinous / diagnosis
  • Xanthomatosis, Cerebrotendinous / etiology


  • Homocysteine