Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 295–307 | Cite as

Leukoencephalopathies associated with inborn errors of metabolism in adults

  • F. Sedel
  • A. Tourbah
  • B. Fontaine
  • C. Lubetzki
  • N. Baumann
  • J.-M. Saudubray
  • O. Lyon-Caen


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.


Fabry Disease Leukodystrophy Spastic Paraparesis Adrenoleukodystrophy Biotinidase 
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
  • A. Tourbah
    • 3
    • 5
  • B. Fontaine
    • 1
    • 3
  • C. Lubetzki
    • 1
    • 4
  • N. Baumann
    • 4
  • J.-M. Saudubray
    • 6
  • O. Lyon-Caen
    • 1
  1. 1.Federation of Nervous System Diseases, Hôpital de la Salpêtrière and Université Pierre et Marie Curie (Paris VI)Assistance Publique-Hôpitaux de ParisParisFrance
  2. 2.Neurometabolic Unit and National Reference Center for Lysosomal DiseasesPitié-Salpêtrière HospitalParisFrance
  3. 3.Unité mixte de recherche INSERM U-546Pitié-Salpêtrière HospitalParisFrance
  4. 4.Unité mixte de recherche INSERM U-711Pitié-Salpêtrière HospitalParisFrance
  5. 5.Service de Neurologie, Centre hospitalier universitaire de Reims et Faculté de médecine de ReimsReimsFrance
  6. 6.National Reference Center for Metabolic Diseases, Necker-enfants malades Hospital and Université René Descartes (Paris V)Assistance Publique-Hôpitaux de ParisParisFrance

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