NINDS Lipid Storage Diseases Information Page
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Is there any treatment?
What is the prognosis?
What research is being done?
Clinical Trials
Organizations
Related NINDS Publications and Information
Publicaciones en Español
Additional resources from MEDLINEplus
What are Lipid Storage Diseases?
Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (called lipids) accumulate in some of the body’s cells and tissues. 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, burning pain in the arms and legs, and clouding of the cornea.
Is there any treatment?
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.
What is the prognosis?
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.
What research is being done?
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.
NIH Patient Recruitment for Lipid Storage Diseases Clinical Trials
| Fabry Support & Information Group 108 NE 2nd Street, Ste. C P.O. Box 510 Concordia, MO 64020-0510 info@fabry.org http://www.fabry.org Tel: 660-463-1355 Fax: 660-463-1356 |
National Gaucher Foundation 2227 Idlewood Road, Suite 12 Tucker, GA 30084 ngf@gaucherdisease.org http://www.gaucherdisease.org Tel: 800-504-3189 Fax: 770-934-2911 |
| Children's Gaucher Research Fund P.O. Box 2123 Granite Bay, CA 95746-2123 research@childrensgaucher.org http://www.childrensgaucher.org Tel: 916-797-3700 Fax: 916-797-3707 |
United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211 800-728-5483 Fax: 815-895-2432 |
| 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) Fax: 920-563-0931 |
Ara Parseghian Medical Research Foundation
[For Niemann-Pick Type C Disease] 3530 East Campo Abierto Suite 105 Tucson, AZ 85718-3327 victory@parseghian.org http://www.parseghian.org Tel: 520-577-5106 Fax: 520-577-5212 |
| National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Brighton, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134 |
March of Dimes Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203 |
| National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
Hide and Seek Foundation for Lysosomal Storage Disease Research 4123 Lankershim Boulevard Suite 302 No. Hollywood, CA 91602-2828 info@hideandseek.org http://www.hideandseek.org Tel: 818-762-8621 Fax: 818-762-2502 |
| ISMRD-International Advocate For Glycoprotein Storage Diseases P.O. Box 328 Dexter, MI 48130 info@ismrd.org http://www.ismrd.org Tel: 734-449-1190 Fax: 734-449-9038 |
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NINDS Niemann-Pick Disease Information Page
Niemann-Pick disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). -
NINDS Metachromatic Leukodystrophy Information Page
Metachromatic Leukodystrophy information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Last updated August 13, 2008
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