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Niemann-Pick Disease Learning Center

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Welcome

Niemann-Pick disease refers to a group of diseases passed down through families(inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.There are four most commonly recogn...

Basic Info

Symptoms
Type A usually begins in the first few months of life. Symptoms may include:Abdominal (belly area) swelling within 3...
Causes
Niemann-Pick disease Type A and B occur when cells in the body lack an enzyme called acid sphingomyelinase (ASM). AS...
Tests
Such testing can tell who has the disease, but does not reveal who may be carriers. DNA tests can be done to diagnose...
Treatments
At this time, there is no effective treatment for Type A. Bone marrow transplantation has been performed on a few pat...
Drugs
  • No Known Drug Therapy
Alternative Therapies
For more information, visit the National Niemann-Pick Disease Foundation website: www.nnpdf.org.
Prevention
All types of Niemann-Pick are autosomal recessive. This means that both parents are carriers-- they each carry one co...
Doctor Specialties
Make an appointment with your health care provider if you have a family history of Niemann-Pick disease and you plan ...

Basic Info

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