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    Gaucher Disease

    Important
    It is possible that the main title of the report Gaucher Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • 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

    • None

    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 patient to patient. Some individuals develop few or no symptoms (asymptomatic); others may have serious complications. Common manifestations of 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 (LSD). 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 sugar (glucose) containing fat, 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 second most common type of lysosomal storage disorder. (Recent publications indicate that Fabry disease is the most prevalent LSD)

    Resources

    Vaincre Les Maladies Lysosomales
    2 Ter Avenue
    Massy, 91300
    France
    Tel: 0169754030
    Fax: 0160111583
    Email: accueil@vml-asso.org
    Internet: http://www.vml-asso.org

    National Tay-Sachs and Allied Diseases Association, Inc.
    2001 Beacon Street
    204
    Brookline, MA 02146-4227
    USA
    Tel: (617)277-4463
    Fax: (617)277-0134
    Tel: (800)906-8723
    Email: info@ntsad.org
    Internet: http://www.NTSAD.org

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    National Gaucher Foundation
    2227 Idlewood Road, Suite 6
    Tucker, GA 30084
    USA
    Tel: (770)934-2910
    Fax: (770)934-2911
    Tel: (800)504-3189
    Email: ngf@gaucherdisease.org
    Internet: http://www.gaucherdisease.org

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Gauchers Association (UK)
    Evesham House Business Centre
    48/52 Silver Street
    Dursley
    Gloucestershire, GL11 4ND
    United Kingdom
    Tel: 441453549231
    Fax: 441453549231
    Email: ga@gaucher.org.uk
    Internet: http://www.gaucher.org.uk

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Instituto de Errores Innatos del Metabolismo
    Carrera 7 No 40 - 62
    Bogota,
    Colombia
    Tel: 5713208320
    Email: abarrera@javeriana.edu.co
    Internet: http://www.javeriana.edu.co/ieim/programas_ieim.htm

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Hide & Seek Foundation for Lysosomal Disease Research
    6475 East Pacific Coast Highway Suite 466
    Long Beach, CA 90803
    Tel: (877)621-1122
    Fax: (866)215-8850
    Email: info@hideandseek.org
    Internet: http://www.hideandseek.org

    Proyecto Pide un Deseo México, i.a.p.
    Altadena #59-501 col. Napoles
    delegacion Benito Juarez
    03810 Mexico D.F.
    Tel: 55 5543-2447
    Fax: 55-5543-5450
    Email: prayecto.pdeundese.mexico@gmail.com
    Internet: http://www.pideundeseo.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 3/4/2014
    Copyright 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1992, 1993, 1994, 1995, 1996, 1997, 1998, 1999, 2001, 2002, 2003, 2004, 2007, 2008, 2011, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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