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Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major... |
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. ASM ...
Tests
Type A and B are diagnosed by measuring the amount of ASM in white blood cells. The test can be done using a blood or...
Treatments
At this time, there is no effective treatment for Type A. Bone marrow transplantation has been performed on a few pat...
Alternative Therapies
For more information, visit the National Niemann-Pick Disease Foundation website: www.nnpdf.org
Complications
Brain damage with varying degrees of mental retardation and delayed development of physical skills; Blindness; Deafne...
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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