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Gaucher Disease

National Organization for Rare Disorders, Inc.

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

  • 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 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. 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 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.

Resources

Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
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
1660 L Street, NW, Suite 301
Washington, DC 20036
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
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Gauchers Association (UK)
3 Bull Pitch
Dursley
Gloucestershire, Intl GL11 4NG
United Kingdom
Tel: 44 1453 549231
Email: ga@gaucher.org.uk
Internet: http://www.gaucher.org.uk

Cochrane Cystic Fibrosis and Genetic Disorders Group
Institute of Child Health, University of Liverpool
Alder Hey Children's NHS Foundation Trust
Liverpool, L12 2 AP
United Kingdom
Tel: +44 151 252 5696
Email: nikkij@liverpool.ac.uk
Internet: http://cfgd.cochrane.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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,
Columbia
Tel: (571) 3208320
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

Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Group
G/F Wang Lai House
Wang Tau Hom Estate
Kowloon,
Hong Kong
Tel: 852-2794-3010
Fax: 852 2338 4820
Email: mps@hk-mps.com
Internet: http://www.hk-mps.com/en/

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:  3/21/2011
Copyright  1984, 1985, 1986, 1987, 1988, 1989, 1990, 1992, 1993, 1994, 1995, 1996, 1997, 1998, 1999, 2001, 2002, 2003, 2004, 2007, 2008, 2011 National Organization for Rare Disorders, Inc.

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