Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses

  • Carla Hollak
  • Matthias Kettwig
  • Lars Schlotawa
  • Robert SteinfeldEmail author


Metabolic disorders that affect the lysosomal degradation of complex carbohydrates, lipids, and proteins are associated with a wide variety of clinical symptoms. At the severe end of the clinical spectrum, neurological symptoms are common and go along with significant brain pathology. The high abundance of sphingolipids in brain partially explains the major neurodegenerative effect of disturbed sphingolipid breakdown. In fact, sphingolipidoses frequently present with an involvement of the cerebral white matter. Other lysosomal disorders, in particular the neuronal ceroid lipofuscinoses (NCLs), primarily affect the cerebral grey matter. The NCLs share the lysosomal accumulation of autofluorescent storage material (lipofuscin) and often result from the disturbed degradation of hydrophobic proteins. The below table lists lysosomal storage diseases that are associated with neurodegeneration. At the milder end of the clinical spectrum, variable degrees of organ involvement exist, such as renal and cardiac disease in Fabry disease and hepatosplenomegaly with bone symtoms in gaucher disease. Neurological involvement is less prominent in these phenotypes.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Carla Hollak
    • 1
  • Matthias Kettwig
    • 2
  • Lars Schlotawa
    • 2
  • Robert Steinfeld
    • 3
    Email author
  1. 1.Division of Endocrinology and Metabolism, Department of Internal Medicine, F5-170Academic Medical Center, University of AmsterdamAmsterdamThe Netherlands
  2. 2.Department of PediatricsUniversity Medical Center GöttingenGöttingenGermany
  3. 3.Department of PediatricsUniversity of GöttingenGöttingenGermany

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