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Lipidoses 

Lipidoses
Chapter:
Lipidoses
Author(s):

Kevin B. Hoover

DOI:
10.1093/med/9780190938178.003.0083
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date: 09 December 2021

Chapter 83 discusses lipidoses. The lipidoses are genetic diseases caused by enzyme deficiencies, which result in the cellular accumulation of lipids. These abnormal cells infiltrate tissues, including bone marrow, resulting in their dysfunction. Gaucher disease (GD) is the most common lysosomal storage disease (LSD) and lipidosis. Fabry disease (FD) is an X-linked recessive disease. Together, GD and FD account for 20% of LSDs. Nonspecific bone changes are detected using radiography, however, MRI is the most useful modality to evaluate involvement of the bone and bone marrow. MRI can also be used to detect treatment response. Enzyme replacement therapy (ERT) is the primary treatment for GD.

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