Lysosomal Storage Diseases

  • Edwin H. Kolodny


In recent years, the lysosomal storage diseases have received considerable attention from geneticists, biochemists, and molecular biologists. Their efforts have led to the recognition of more than 40 varieties of lysosomal storage disease, many with signs of nervous system degeneration and mental retardation. The combined incidence of these diseases is probably on the order of one per each 5000 births. They are similar in their general clinical characteristics to other forms of inherited metabolic disease; therefore, their accurate diagnosis depends ultimately upon the performance of specific laboratory tests. No definitive treatment is available for any of these diseases, but early diagnosis greatly facilitates their management and provides the parents and relatives of patients with the opportunity to receive informed genetic counseling. This chapter outlines a stepwise approach to the diagnosis of these diseases, discusses the author’s experience with their management, and anticipates the direction of future developments. For more information on specific topics, the reader may consult several excellent books.1–3


High Performance Liquid Chromatography Enzyme Replacement Therapy Lysosomal Enzyme Fabry Disease Storage Disease 


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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Edwin H. Kolodny
    • 1
  1. 1.Eunice Kennedy Shriver Center for Mental RetardationWalthamUSA

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