Lysosomal Storage Diseases
Lysosomal storage diseases (LSDs) are a group of inherited genetic conditions affecting 1 in 7700 children born making it as common, but less well known, as hereditary conditions like hemophilia. There are an estimated 3,500 or more peopl
The underlying mechanism which all LSD have in common is the dysfunction, deficiency or complete absence of an enzyme in the cells of the body. The enzymes affected by LSDs are porting which breakdown waste products in cells. In each cell th
LSDs are progressive conditions and the signs and symptoms depend on the enzyme affected. For example, in Gaucher disease, which affects 1 in 40 000 people, the enzyme glucocerebrosidase is deficient, leading to a build-up of glucocerebroside i
The treating doctor has to suspect the diagnosis in order to test for it. This is where the real problem lies. LSDs are a relatively rare group of conditions and the doctors don't always consider the diagnosis. Often, they will explore other m
General Treatments There is no cure for LSDs. There are, however, many treatment options depending on the particular conditions and symptoms the person is experiencing. General treatments such as physiotherapy, occupational therapy etc are vital in
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