Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body. Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coast and protects the nerves. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow. Lipid storage diseases are inherited from one or both parents who carry a defective gene. Symptoms may appear early in life or develop in the teen or even adult years. Neurological complications of the lipid storage diseases may include ataxia, eye paralysis, brain degeneration, seizures, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, pain in the arms and legs, and clouding of the cornea.
Currently there is no specific treatment available for most of the lipid storage disorders, although Gaucher and Fabry diseases have highly effective enzyme replacement therapies. There is currently no cure for Niemann-Pick disease. Treatment is supportive. Doctors often prescribe corticosteroids to relieve the pain of Farber’s disease. Anticonvulsant medications are often used to control seizures in Tay-Sachs disease.
The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms. Children with Gaucher disease may live well into adulthood, while children with Niemann-Pick disease most often die at a young age from infection or progressive neurological loss. Children with Fabry disease often die prematurely of complications from heart disease, renal failure, or stroke. Most children with Farber’s disease die by age 2, usually from lung disease. Children with Tay-Sachs disease may eventually need a feeding tube and they often die by age 4 from recurring infection.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to lipid storage diseases in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. NINDS researchers were responsible for developing highly effective enzyme replacement therapies for Gaucher and Fabry diseases. Scientists at the NINDS continue to study how lipids accumulate in cells and why they cause harm to the body. The goal of this research is to develop novel approaches to the treatment of these disorders.
Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
National Gaucher Foundation, Inc.
61 General Early Drive
Harpers Ferry, WV 25425
Tel: 877-649-2742 800-504-3189
Children's Gaucher Research Fund
P.O. Box 2123
Granite Bay, CA 95746-2123
United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb, IL 60115
Tel: 815-748-3211 800-728-5483
National Niemann-Pick Disease Foundation, Inc.
P.O. Box 49
401 Madison Avenue, Suite B
Ft. Atkinson, WI 53538
Tel: 920-563-0930 877-CURE-NPC (287-3672)
Ara Parseghian Medical Research Foundation
[For Niemann-Pick Type C Disease]
3530 East Campo Abierto
Tucson, AZ 85718-3327
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-997-4488 888-MODIMES (663-4637)
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Long Beach, CA 90803
ISMRD-International Advocate For Glycoprotein Storage Diseases
20880 Canyon View Drive
Saratoga, CA 95070
National Fabry Disease Foundation
4301 Connecticut Avenue, NW
Washington, DC 20008-2369
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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Last Modified September 3, 2015