Niemann- Pick Disease Type A By: Mia Smyers

What is Niemann-Pick Disease?

Niemanns-Pick Disease is a family of diseases and sicknesses that are inherited to others and fatty substance called "lipids" are spread in the spleen, liver, and the brain. There are four familiar forms of this diastase named, type A, B, C, and D.

2. What is the gene that the mutation occurs in to cause this disease?

The gene that the mutation occurs in to cause Niemann-Pick Disease Type-A is the SMPD1 gene.

What protein is produced by the gene from #2?

NPC1 is the protein that is produced from the SMPD1 gene.

How and when was the disease first discovered/documented?

Niemann-Pick Type A was created in 1914 by Albert Niemann. Later when it hit the 1920s, more research was created to look into children who get this disease.

Albert Niemann

What is the incidence rate of the disease in the US? In the world?

This diseases is very rare. Niemann Pick Disease only affects less than 200,000 people in the United States of America.

Are any specific populations of people affected more than others?

The population thats that are more affected with Niemann-Pick are North America, South America, Europe, Africa, Asia, and Australia. On the other hand, it is very populated in Ashkenazi Jewish population (NPA and NPB)

What are the symptoms?

The symptoms of this disease are abdominal pains/swelling within months and red spots throughout the eye.

How is the disease diagnosed?

This disease is diagnosed when a blood sample or bone sample is drawn. It shows how much ASM is in the white blows to proceed with the diagnosis.

How is the disease treated?

Niemann-Pick is treated with physical therapy. It is important to have frequent doctor appointments. No cures exist for this disease.

What is the prognosis for a patient diagnosed with the disease?

Since no cure is secure with this disease, physical therapy is important with Niemann-Pick.

What is the genetic pattern of inheritance (autosomal or sex-linked, dominant or recessive)?

This disease is passed down by families. It is Autosomal recessive.

Autosomal Recessive

What current research is being conducted on the disease or its treatments?

There is currently no treatment and such. On the other hand, there are different foundations such as the National Niemann-Pick Disease Foundation Inc.


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