Important
It is possible that the main title of the report Gaucher Diseaseis not the name you expected.

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
accueil@vml-asso.org
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
800: (800)906-8723
info@ntsad.org
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
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

National Gaucher Foundation
2227 Idlewood Road
Suite 12
Tucker
GA
30084
USA
Tel: (770)934-2910
800: (800)504-3189
ngf@gaucherdisease.org
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
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
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
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

Gauchers Association (UK)
3 Bull Pitch
Dursley
Gloucestershire
Intl
GL11 4NG
United Kingdom
Tel: 44 1453 549231
ga@gaucher.org.uk
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
cfgd@liv.ac.uk
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
800: (877)336-5333
mums@netnet.net
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
mail@sjaeldnediagnoser
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
abarrera@javeriana.edu.co
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
info@hideandseek.org
http://www.hideandseek.org