Ldnz.org.nz
Title
Lysosomal Diseases New Zealand
Description
About Lysosomal Diseases
Lysosomal Storage diseases are inherited genetic defects which result in an enzyme deficiency. The usual effect of this is to prevent the lysosome in the cells of the body from performing its natural recycling function, and various materials are inappropriately stored in the cell. In some of the diseases the enzyme may be present but there are problems with transport of the enzyme into the lysosome, but often causing a similar set of problems.
The diseases lead to a variety of progressive physical and/or mental deterioration over time. Some of the diseases may present in a "mild" form, and others with a more severe impact on the patient. Some patients survive into adulthood, but others with more severe symptoms may die in their teens or earlier.
There are currently more than 45 conditions which come within the category of Lysosomal Storage diseases. There is speculation that many other conditions may have lysosomal storage as their base cause, but the evidence of this is yet to be established for up to 50 other rare conditions.
Languages
English
