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 coats 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 lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, 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 effective enzyme replacement therapies. Eligustat tartrate has been approved to reduce excess buildup in Gaucher disease. Other treatment is supportive. Doctors often prescribe corticosteroids and anticonvulsants to relieve pain. Anticonvulsant medications are often used to control seizures. Restricting one's diet does not prevent lipid buildup in cells and tissues.
The prognosis for a lipid storage disorder is determined by the type of disease, the age of onset, and the severity of symptoms. Children treated for some forms of Gaucher disease may live well into adulthood, while children with Niemann-Pick disease 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 and Sandhoff diseases often die at an early age from recurring or respiratory infection.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. 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 effective enzyme replacement therapies for Gaucher and Fabry diseases. NINDS-funded scientists continue to study how lipids accumulate in cells and why they cause harm to the body, and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. The NINDS, along with other Institutes and Centers of the National Institutes of Health, supports the Lysosomal Disease Network, a network of centers that address some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases.
Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
National Gaucher Foundation, Inc.
5410 Edson Lane, Suite 220
Rockville, MD 20852
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 February 23, 2016