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Rare Disease Awareness Month: Niemann-Pick Disease

October 1, 2013

The National Niemann-Pick Disease (NPD) Foundation (US) is celebrating October 2013 as the 12th Annual National Niemann-Pick Disease Awareness Month. For information on helping to promote Niemann-Pick Disease awareness, check out the website for ideas. The NPD Foundation is a non-profit [501(c)(3)] organization that supports and promotes research to find treatments and a cure for all types of Niemann-Pick Disease. The Foundation also provides support services for patients and their families affected by NPD.

NPDs are a subgroup of Lysosomal Storage Diseases (LSDs) that affect metabolism and are caused by genetic mutations. NPD is named after the two doctors who described the symptoms in the early part of the 20th century – Dr. Albert Niemann and Dr. Luddwick Pick. NPDs are characterized by the harmful accumulation of quantities of fatty substances, or lipids, in the spleen, lungs, bone marrow, liver, and brain. The three most commonly recognized forms of NPD are:

•   Niemann-Pick Types A & B (ASMD or Acid Sphingomyelinase Deficiency)
•   Niemann-Pick Type C (NPC).

Niemann-Pick types A and B are caused by a deficiency of an enzyme called acid sphingomyelinase. The enzyme deficiency leads to enlargement of the liver and spleen, lung disease, low blood cell counts, and in some cases a shortened lifespan. Mutations in the SMPD1 gene causes NPD Types A and B, while mutations in the NPC1 and NPC2 causes NPD Type C. NPD is an autosomal recessive disorder, which means it is not sex-linked and must be inherited from two parents who carry a mutation on one copy of the Niemann-Pick gene.. The incidence of NPD:

•   Among Ashkenazi Jews is  approximately 1/40,000    for Type A
•   In all other populations, it is approximately 1/250,000 for Types A & B
•   It is approximately 1/150,000 for Type C.

References

Ara Parseghian Medical Research Foundation (Type C)

International Niemann-Pick Disease Alliance (INPDA)

National Niemann-Pick Disease Foundation (US)

Niemann-Pick Disease Group (UK).

Please Note: “Niemann-Pick Disease Awareness Month” courtesy of the National Niemann-Pick Disease Foundation (US).

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

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