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. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=lipid+storage+disease[majr]+AND+human[mh]+AND+english[la]+AND+(review[ptyp]+OR+review+literature[mh]+OR+practice+guideline[ptyp]+OR+guideline[ptyp]+OR+clinical+trials[mh]+OR+clinical+trial[ptyp]+OR+consumerj[sb])&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html 2 http://clinicaltrials.gov/ct2/results?term= /disorders/lipid_storage_diseases/pubs_lipid_storage_diseases.htm /disorders/lipid_storage_diseases/xml_lipid_storage_diseases.xml xml_lipid_storage_diseases.xml V818 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 660-463-1355 660-463-1356 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. V136 National Gaucher Foundation

2227 Idlewood Road, Suite 12

Tucker GA 30084 ngf@gaucherdisease.org http://www.gaucherdisease.org 800-504-3189 770-934-2911 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. V817 Children's Gaucher Research Fund

P.O. Box 2123

Granite Bay CA 95746-2123 research@childrensgaucher.org http://www.childrensgaucher.org 916-797-3700 916-797-3707 Grassroots non-profit organization that supports research efforts on Types 2 and 3 Gaucher disease. V155 United Leukodystrophy Foundation

2304 Highland Drive

Sycamore IL 60178 office@ulf.org http://www.ulf.org 815-895-3211 800-728-5483 815-895-2432 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. V180 National Niemann-Pick Disease Foundation, Inc.

P.O. Box 49

401 Madison Avenue, Suite B Ft. Atkinson WI 53538 nnpdf@nnpdf.org http://www.nnpdf.org 920-563-0930 877-CURE-NPC (287-3672) 920-563-0931 International nonprofit organization made up of parents, medical and educational professionals, friends, relatives, and others. V179 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 520-577-5106 520-577-5212 Funds research projects that will lead to a treatment for Niemann-Pick Type C and other pediatric neurological diseases and cholesterol metabolism disorders. V223 National Tay-Sachs and Allied Diseases Association

2001 Beacon Street

Suite 204 Boston MA 02135 info@ntsad.org http://www.ntsad.org 800-90-NTSAD (906-8723) 617-277-0134 The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives. V41 March of Dimes

1275 Mamaroneck Avenue

White Plains NY 10605 askus@marchofdimes.com http://www.marchofdimes.com 914-997-4488 888-MODIMES (663-4637) 914-428-8203 Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy. V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service. V862 Hide and Seek Foundation for Lysosomal Storage Disease Research

6475 East Pacific Coast Highway

Suite 466 Long Beach CA 90803 info@hideandseek.org http://www.hideandseek.org 877-621-1122 818-762-2502 Nonprofit that raises awareness and supports research to find treatments and cures for lysosomal disorders. V859 ISMRD-International Advocate For Glycoprotein Storage Diseases

20880 Canyon View Drive

Saratoga CA 95070 info@ismrd.org http://www.ismrd.org 734-449-1190 734-449-9038 ISMRD-International Advocate For Glycoprotein Storage Diseases advocates for families worldwide affected by Glycoprotein & Related Storage Diseases by building partnerships with medicine, science and industry and by providing a network of support and information. V921 National Fabry Disease Foundation

4301 Connecticut Avenue, NW

Suite 404 Washington DC 20008-2369 info@fabrydisease.org www.fabrydisease.org 800-651-9131 800-651-9135