What is Niemann-Pick Disease?
Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders
known as the leukodystrophies or lipid storage diseases in which harmful
quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs,
bone marrow, and the brain. Symptoms may include lack of muscle coordination,
brain degeneration, learning problems, loss of muscle tone, increased
sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred
speech, and an enlarged liver and spleen. There may be clouding of the cornea
and a characteristic cherry-red halo develops around the center of the retina.
The disease has 4 related types. Type A, the most common type, occurs in
infants. It is characterized by jaundice, an enlarged liver, and profound brain
damage. Children with this type rarely live beyond 18 months. Type B involves an
enlarged liver and spleen, which usually occurs in the pre-teen years. The brain
is not affected. In types A and B, insufficient activity of an enzyme called
sphingomyelinase causes the build up of toxic amounts of sphingomyelin,
a fatty substance present in every cell of the body. Types C and D may appear
early in life or develop in the teen or adult years. Affected individuals have
only moderate enlargement of the spleen and liver, but brain damage may be
extensive and cause an inability to look up and down, difficulty in walking and
swallowing, and progressive loss of vision and hearing. Types C and D are
characterized by a defect that disrupts the transport of cholesterol between
brain cells. Type D usually occurs in people with an ancestral background in
Nova Scotia.
Is there any treatment?
There is currently no effective treatment for persons with type A. Bone
marrow transplantation has been attempted in a few patients with type B, and
encouraging results have been reported. The development of enzyme replacement
and gene therapies might also be helpful for those with type B. Individuals with
types C and D are frequently placed on a low-cholesterol diet, but its clinical
benefit is not convincing.
What is the prognosis?
Infants with type A die in infancy. Children with type B may live a
comparatively long time, but may require supplemental oxygen because of lung
impairment. The life expectancy of persons with types C and D varies: Some
individuals die in childhood while others, who appear to be less severely
affected, live into adulthood.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS), a part
of the National Institutes of Health (NIH), conducts research about Niemann-Pick
disease in laboratories at the NIH and also supports additional research through
grants to major medical institutions across the country. Investigators at the
NINDS have identified two different genes that, when defective, contribute to
Niemann-Pick disease types C and D.
Organizations
Ara Parseghian Medical Research Foundation (For Niemann-Pick Type C Disease)
3530 East Campo Abierto, Suite 105
Tucson, AZ 85718-3327
victory@parseghian.org
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
www.nnpdf.org
Tel: 920.563.0930 877.CURE-NPC (287.3672)
Fax: 920-563-0931
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street, Suite 204
Brighton, MA 02135
info@ntsad.org
www.ntsad.org
Tel: 617.277.4463 800.90.NTSAD (906.8723)
Fax: 617.277.0134
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 6/18/2007...#6059
