Gaucher Disease / Disease

Diseases & Conditions

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Gaucher Disease

Synonyms of Gaucher Disease

Cerebroside Lipidosis Syndrome
Gaucher splenomegaly
Glucocerebrosidase deficiency
Glucocerebrosidosis
Glucosylceramidase deficiency
Glucosyl cerebroside lipidosis
Kerasin lipoidosis
Kerasin thesaurismosis
Lipid histiocytosis (kerasin type)
Sphingolipidosis 1

Disorder Subdivisions

Norrbottnian Gaucher Disease
Type I Gaucher Disease
Type II Gaucher Disease
Type III Gaucher Disease

General Discussion
Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symptoms (asymptomatic); others may have serious complications. Common symptoms associated with Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets(thrombocytopenia), and skeletal abnormalities. Platelets are blood cells that promote clotting and patients with thrombocytopenia may develop bleeding problems. Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and extent of, neurological complications. All three forms of Gaucher disease are inherited as autosomal recessive traits.

Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or digest nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain fats, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or storage of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder.
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Organizations related to Gaucher Disease

Cochrane Cystic Fibrosis and Genetic Disorders Review Group
Institute of Child Health
Liverpool None L12 2 AP
Phone #: +44- (0-) 1512525696
800 #: --
e-mail: cfgd@liv.ac.uk
Home page: http://www.liv.ac.uk/cfgd/
Gauchers Association (UK)
3 Bull Pitch
Gloucestershire Intl GL11 4NG
Phone #: 44 -145-3 549231
800 #: --
e-mail: ga@gaucher.org.uk
Home page: http://www.gaucher.org.uk
Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
North Hollywood CA 91602-2828
Phone #: 818-762-8621
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
S.A. Edificio 53 Lab. 305A None None
Phone #: 50 -1 3-208320
800 #: N/A
e-mail: abarrera@javeriana.edu.co
Home page: http://www.javeriana.edu.co
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
National Gaucher Foundation
2227 Idlewood Road
Tucker GA 30084
Phone #: 770-934-2910
800 #: 800-504-3189
e-mail: ngf@gaucherdisease.org
Home page: http://www.gaucherdisease.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: info@ntsad.org
Home page: http://www.NTSAD.org
Sj?ldne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K None 1220
Phone #: 45 -33 -14 00 10
800 #: N/A
e-mail: mail@sjaeldnediagnoser
Home page: http://www.raredisorders.dk
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html