NINDS Niemann-Pick Disease Information Page: NINDS

Article title: NINDS Niemann-Pick Disease Information Page: NINDS

Main condition: Niemann-Pick Disease

Conditions: Niemann-Pick Disease

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What is Niemann-Pick disease?
Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. The clinical designations applied to NP are somewhat erratic. Patients are currently subdivided into 4 categories. In the first, called type A, enlargement of the liver and spleen are apparent in infancy and profound brain damage is evident. These children rarely live beyond 18 months. In the second group, called type B, enlargement of the liver and spleen characteristically occur in the pre-teen years. Most of these patients also have pulmonary difficulties, but the brain is not affected. The fatty material that accumulates in types A and B is called sphingomyelin. This lipid is a major component of the membrane of all cells in the body. The metabolic defect in types A and B is insufficient activity of an enzyme called sphingomyelinase that initiates the biodegradation of sphingomyelin that arises from normal cell turnover. The term NP also includes 2 other variant forms called types C and D. Patients with these types have only moderate enlargement of their spleens and livers. They have brain involvement that can be extensive leading to inability to look up and down, difficulty in walking and swallowing, as well as progressive loss of vision and hearing. The disorder may appear early in life or its onset may be delayed into the teen years. Both types are characterized by an inability to mobilize cholesterol in the nerve cells in the brain where it accumulates and causes malfunction of these cells. The only difference between these two subtypes is that type D arises in people with a common ancestral background in Nova Scotia.

Is there any treatment?
There is currently no effective treatment for patients with type A. Bone marrow transplantation has been attempted in a few patients with type B, and encouraging results have been reported. Since type B resembles type 1 Gaucher’s disease to a considerable degree, one might anticipate that enzyme replacement, and ultimately gene therapy, will eventually be helpful for these patients. Patients with types C and D are frequently placed on a low-cholesterol dietary regimen, but its clinical benefit is not convincing.

What is the prognosis?
Patients with type A die in infancy. Type B patients may live a comparatively long time, but many require supplemental oxygen because of lung involvement. The life expectancies of patients with types C and D are quite variable. Some patients die in childhood while others who appear to be less drastically affected live into adulthood.

What research is being done?
The gene that is altered in the majority of patients with type C (and D) was identified by investigators at NINDS. A second (different) gene that is mutated in a minority of patients with type C Niemann-Pick disease was discovered in 2000.

 Organizations

Ara Parseghian Medical Research Foundation [For Niemann-Pick Type C Disease]
1760 East River Road
Suite 115
Tucson, AZ 85718
victory@parseghian.org
http://www.parseghian.org/
Tel: 520-577-5106
Fax: 520-577-5212

National Niemann-Pick Disease Foundation, Inc.
P.O. Box 49
Ft. Atkinson, WI 53538
nnpdf@idcnet.com
http://www.nnpdf.org/
Tel: 920-563-0930 877-CURE-NPC (287-3672)

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
NTSAD-boston@worldnet.att.net
http://www.ntsad.org/
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

National Foundation for Jewish Genetic Diseases
250 Park Avenue
c/o Suite 1000
New York, NY 10177
http://www.nfjgd.org/
Tel: 212-371-1030

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

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