What is Niemann-Pick disease?
Niemann-Pick is a rare and inherited disease which affects the body’s ability to break down fat in the cells.
It affects the brain, liver, nerves and in extreme cases can affect the lungs.
Niemann-Pick disease is classified into three types:
- Type A is the most severe form of the disease and is usually fatal in early childhood.
- Type B is a less severe form of the disease that typically presents in early childhood.
- Type C is the least severe form of the disease and typically presents in adolescence or adulthood.
What causes Niemann-Pick disease?
Niemann-Pick disease is caused when both parents pass down a mutated gene.
The genes involved in Niemann-Pick disease are responsible for producing an enzyme called sphingomyelinase.
When this enzyme is mutated, it causes cells to accumulate fat, which can damage the liver, spleen, lungs and eventually the brain.
What are the symptoms of Niemann-Pick disease?
Depending on the type and severity of the disease, a person infected by Niemann-Pick will experience varying symptoms.
These can include:
- Clumsiness
- Excessive muscle contractions
- Disturbed sleeping patterns
- Difficulty swallowing and eating
- Recurring pneumonia
There is currently no cure for Niemann-Pick disease, but there are treatments that can help manage some of the symptoms and further treatments are under clinical investigation.
