Lipid Storage Diseases
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
Non-profit support and information group that works to raise awareness of Fabry disease and its symptoms. Offers a variety of self-help, educational, and advocacy initiatives and programs in an effort to enhance identification, diagnosis, and treatment of Fabry disease.
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
National Gaucher Foundation, Inc.
Funds research for a cure and alternative treatments for Gaucher Disease; provides education, financial, support and mentor programs and advocates for legislation affecting the Gaucher and rare disease community.
61 General Early Drive
Harpers Ferry, WV 25425
Tel: Harpers Ferry
Children's Gaucher Research Fund
Grassroots non-profit organization that supports research efforts on Types 2 and 3 Gaucher disease.
P.O. Box 2123
Granite Bay, CA 95746-2123
Tel: Granite Bay
United Leukodystrophy Foundation
Nonprofit voluntary health organization dedicated to providing patients and their families with information; assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness, and acting as an information source for health care providers. Promotes supports research into causes, treatments, and prevention of the leukodystrophies.
224 North 2nd Street, Suite 2
DeKalb, IL 60115