Understanding Niemann-Pick disease (NPD)
Lysosomal Storage Disorders description and video explanation.
What are Lysosomal Storage Disorders (LSDs)?
The recycling centre of the body
Lysosomal Storage Disorders (LSDs) are a group of diseases that affect the lysosome, an important part of all the cells in our body. The lysosomes’ role in our body is to break down the unused materials of our cells and recycle them for future use¹. They are like the recycling centres for our bodies. These unused materials include carbohydrates, lipids and proteins.
People with LSDs have lysosomes that do not possess the capability to break down some of these specific substances. It is as if the recycling centre is not working.
The broken recycling centre causes a build-up of rubbish (unused materials) in the centre (the lysosome and the cell) which causes the whole building to overfill (toxic levels of unused materials) and collapse (cell death).
Since the lysosome cannot process these materials, they build up in the lysosome and the cell, which causes toxicity and eventual cell death². This cell death causes a wide range of symptoms depending on the type of LSD and the cells where accumulation occurs.
Typical symptoms of LSDs include³:
Intellectual and Physical Delay
Seizures
Joint Stiffness and Pain
Swelling in Intestinal Organs
Problems with Vision and Hearing
Difficulty breathing
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Last updated
October 2024
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