Leukodystrophies and Lysosomal Storage Disorders

  • Maria L. Escolar
  • Mieke Aldenhoven
Part of the Stem Cell Biology and Regenerative Medicine book series (STEMCELL)


The leukodystrophies are a group of inherited metabolic disorders in which there is abnormal development or progressive degeneration of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Each of the leukodystrophies is the result of a defect in the gene that controls the production or metabolism of one (and only one) of the many component molecules of myelin. The word leukodystrophy comes from the Greek roots leuko, white, dys, lack of, and troph, growth. Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus–Merzbacher disease, Canavan disease, Alexander disease, Refsum disease, cerebrotendinous xanthomatosis, and childhood ataxia with central nervous system hypomyelination (also known as vanishing white matter disease).


Lysosomal Storage Disorders Krabbe Disease Arylsulfatase A (ARSA) Hematopoietic Stem Cell Transplantation (HSCT) ARSA Activity 
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 New York 2013

Authors and Affiliations

  • Maria L. Escolar
    • 1
  • Mieke Aldenhoven
    • 2
  1. 1.Program for the Study of Neurodevelopment in Rare DisordersUniversity of Pittsburgh Medical CenterPittsburghUSA
  2. 2.Department of Pediatrics, Pediatric Blood and Marrow Transplantation ProgramUniversity Medical Center UtrechtUtrechtThe Netherlands

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