Gaucher Disease

Synonyms

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

Disorder Subdivisions

• Type I Gaucher Disease
• Type II Gaucher Disease
• Type III Gaucher Disease
• Norrbottnian 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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Resources

Vaincre Les Maladies Lysosomales

2 ter avenue de Fance

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

Suite 204

Brighton, MA 02135

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)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



National Gaucher Foundation

2227 Idlewood Road

Suite 12

Tucker, GA 30084

USA

Tel: (770)934-2910

Tel: (800)504-3189

Email: ngf@gaucherdisease.org

Internet: http://www.gaucherdisease.org



The Arc (a national organization on mental retardation)

1010 Wayne Ave

Suite 650

Silver Spring, MD 20910

Tel: (301)565-3842

Fax: (301)565-3843

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



National Institute of Neurological Disorders and Stroke (NINDS)

31 Center Drive

8A07

Bethesda, MD 20892-2540

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Email: braininfo@ninds.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 Review Group

Institute of Child Health

Royal Liverpool Children's NHS Trust

Alder Hey Hospital, Eaton Road

Liverpool, L12 2 AP

United Kingdom

Tel: +44 (0) 1512525696

Fax: +44 (0) 1512525456

Email: cfgd@liv.ac.uk

Internet: http://www.liv.ac.uk/cfgd/



MUMS (Mothers United for Moral Support, Inc) 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/



Sjældne Diagnoser / Rare Disorders Denmark

Frederiksholms Kanal 2, 3rd Floor

Copenhagen K, 1220

Denmark

Tel: 45 33 14 00 10

Fax: 45 33 14 55 09

Email: mail@sjaeldnediagnoser

Internet: http://www.raredisorders.dk



Instituto de Errores Innatos del Metabolismo

Carrera 7 No 43-82

Bogota, Columbia

S.A. Edificio 53 Lab. 305A,

Tel: 50 1 3208320

Fax: 51 1 3384548

Email: abarrera@javeriana.edu.co

Internet: http://www.javeriana.edu.co



Hide & Seek Foundation for Lysosomal Disease Research

4123 Lankershim Blvd.

Suite 302

North Hollywood, CA 91602-2828

Tel: (818)762-8621

Fax: (818)762-2502

Email: info@hideandseek.org

Internet: http://www.hideandseek.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

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:  11/12/2008

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