Diseases & Conditions


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.

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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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: [email protected]
    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