61. Gaucher Disease - About Disease Gaucher (pronounced goshay) disease is a genetic disorder, which results in the deficiency in Why Is Gaucher disease Type 2 and Type 3 More Serious? http://www.childrensgaucher.org/about/aboutdisease.htm

Visit Family Stories and find out more about these children Gaucher (pronounced 'go-shay) disease is a genetic disorder, which results in the deficiency in an enzyme, causing old cells to be stored in areas such as the liver, spleen, lungs, lymph system, and bones instead of being expelled from the body. In more severe cases,which affect young children, they also accumulate in the central nervous system. What Are Gaucher Cells? What Happens When Gaucher Cells Accumulate? Why Is Gaucher Disease Type 2 and Type 3 More Serious? What Can Be Done? ... What Research Needs To Be Done? If you are the parent of a child with Type 2 or Type 3 Children's Gaucher Disease, please join our Family Connection. What Are Gaucher Cells The human body contains specialized cells called macrophages that remove worn-out cells by degrading them into simple molecules for recycling. This process is analogous to eating and digesting food. The macrophages "eat" worn-out cells and degrade them inside cell compartments called lysosomes that serve as the "digestive tracts" of cells. The enzyme glucocerebrosidase (pronounced "gloo-ko-ser-e-bro-si-dase) is located within the lysosomes and is responsible for breaking down glucocerebroside into glucose and a fat called ceramide. People with Gaucher disease lack the normal form of the glucocerebrosidase enzyme and are unable to break down glucocerebriside. Instead, the glucocerebroside remains stored within the lysosomes preventing the macrophages from functioning normally. Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells. This is why Gaucher disease is often referred to as a "storage disease". Because the enzyme is not working properly, these undigested cells are "stored," and accumulate in various parts of the body.

62. Children's Gaucher Disease - Resource Directory This page contains resources on Children s Gaucher disease on the internet. http://www.childrensgaucher.org/resource/resourcedirectory.htm

Visit Family Stories and find out more about these children Resources On The Internet alphabetical order www.bdsra.org Brave Kids http://www.bravekids.org/ Web resource center for kids with chronic or life threatening illnesses. Center Watch, Clinical Trials Listing Service www.centerwatch.com Children's Gaucher Research Fund http://www.childrensgaucher.org The Children's Gaucher Research Fund is a non-profit organization, that raises funds to coordinate and support research aimed at finding a cure for Type 2 and Type 3 Gaucher disease. Compassionate Friends http://www.compassionatefriends.org/ The mission of The Compassionate Friends is to assist families in the positive resolution of grief following the death of a child and to provide information to help others be supportive. Children's Hospice International www.chionline.org Comprehensive Gaucher Treatment Center - Los Angelas - California http://gaucherwest.com Gaucher Association, UK http://www.gaucher.org.uk The Gauchers Association, UK, was formed in 1991 to meet the needs of those suffering from Gaucher disease. Its members are mainly in the UK and Ireland. Genzyme Corporation, Cambridge, Massachusetts

63. Hill Health Topics A-Z - Gaucher Disease It is possible that the main title of the report Gaucher disease is not the name Gaucher disease is the most common type of lysosomal storage disorder. http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord12&SEC

64. Gaucher Disease The Brookdale Hospital and Medical Center Brooklyn, New York. http://www.brookdale.edu/html/gaucher_disease.html

General Medicine Cardiology Endocrinology Gastroenterology ... Hematology Gaucher Disease Infectious Diseases Nephrology Pulmonary Medicine Rheumatology Center for Diagnosis and Treatment of Gaucher Disease Director: Mark Levin, MD. Gaucher Disease: The Jewish Community at Risk Genny, a 73-year-old Jewish woman from Russia, came to Dr. Mark Levin with an enlarged liver and spleen, pain in her back and joints, and advanced anemia. Dr. Levin, Brookdale's Director of the new Center for Diagnosis and Treatment of Gaucher Disease and Co-Director of the Division of Medical Oncology, diagnosed Gaucher Disease, a rare genetic disorder that targets Ashkenazi Jews, natives of Central and Eastern Europe. Mark Levin, MD Director of Treatment of Gaucher Disease Two thirds of the victims of Gaucher (pronounced "go-shay") are Ashkenazi Jews. The disease strikes one in every 500 Ashkenazi Jews and is carried by one in every 10. New York City is estimated to have one-fourth of the Gaucher population of the country. Among the general population, only about one in every 20,000 to 40,000 has Gaucher Disease. Brookdale's Expertise "It is believed that for every known case of Gaucher, two cases remain undiagnosed," says Dr. Levin. Individuals of Jewish ancestry, with or without a family history, are candidates for testing. Unless symptoms appear, screenings are recommended only for those 18 and older. If you have a family history or symptoms, you can receive an evaluation and a simple and free blood test at The Brookdale University Hospital and Medical Center, either on our main campus at Linden Boulevard and Rockaway Parkway, or at our satellite office in Sheepshead Bay at 1616 Voorhies Avenue.

65. GAUCHER DISEASE : Contact A Family - For Families With Disabled Children: Inform Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/g15.html

printer friendly GAUCHER DISEASE home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Gaucher disease is a lysosomal storage disorder that is caused by an inherited deficiency of the enzyme glucocerebrosidase. In Type 1 symptoms may appear at any time from infancy to old age. The disease is associated with anaemia (anaemia - US), fatigue, bruising and an increased tendency to bleed. An enlarged spleen and liver with abdominal distension may also occur as well as bone pain, fractures and skeletal degeneration. In the neuropathic forms of the condition (Types 2 and 3) involvement of the central nervous system is seen. Inheritance patterns Autosomal recessive inheritance. The most common form (Type 1) affects under 1 in 100,000 of the general population but about 1 in 1,000 of Ashkenazi Jews. Not all these will show symptoms. Prenatal diagnosis Chorionic villus sampling at ten to twelve weeks allows the condition to be diagnosed in the early stages of pregnancy. Medical text last updated December 2001 by Dr A Velodi, Consultant Paediatrician and Honorary Senior Lecturer, Metabolic Unit, Great Ormond Street Hospital, London, UK.

66. Lab. Diagnosis Of And Genetic Counseling For Gaucher Disease Gaucher disease (GD) is divided into three subtypes based on clinical signs An improved procedure for diagnosis of Gaucher disease using cultured skin http://gaucher.mgh.harvard.edu/clinicalperspectives/April1996/labdiagnosis.html

Gaucher Clinical Perspectives - Vol 4, No 2 - April 1996 Laboratory Diagnosis of and Genetic Counseling for Gaucher Disease Erin O. Rice, MS, and John A. Barranger, MD, PhD Department of Human Genetics, University of Pennsylvania, Pittsburgh, Pennsylvania Gaucher disease (GD) is divided into three subtypes based on clinical signs and symptoms: Type 1 (nonneuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). [ l ] All three types of GD are caused by a deficiency of gluco-cerebrosidase (GC) resulting in the accumulation of glucosylceramide within the cells of the reticuloendothelial system. The principal difference among the types is the presence and progression of neuro-logic complications. The symptoms of any type may begin in infancy; however, the designation of clinical subtype is made on the basis of clinical manifestations in the nervous system and is a more appropriate classification than one based on age at onset (Table 1) . The assignment of type, especially in children, should he made only after a careful examination of the presence and progression of related neurologic abnormalities because of the significant differences in prognosis.

67. National And International Gaucher Disease Patient Organizations List National and International Gaucher disease Patient Organizations List Argentina Asociacion Gaucher Argentina Leopoldo Marechal 1314 Dto.2 1414 Buenos http://gaucher.mgh.harvard.edu/orglist.html

National and International Gaucher Disease Patient Organizations List Argentina Australia Brazil Canada ... USA Argentina Asociacion Gaucher Argentina Leopoldo Marechal 1314 Dto.2 1414 Buenos Aires, Argentina Telephone:54-1-854-5196 E-Mail: silviag@mbox.servicenet.com.ar Australia Gaucher Association of Australia 6 Logan Street Capalaba 4157 Queensland, Australia 61-7-245-1848 Brazil Associacao Brasileira dos Portadores da Doenca de Gaucher Rua Nilo Pecanha, 155 SL Rio de Janeiro, RJ Brazil Tel: 55-21-220-8633 Canada National Gaucher Foundation of Canada c/o Mark Freedman Harris, Sheaffer Barristers and Solicitors, Yonge Corporate Center, 4100 Yonge St., Suite 310, North York M2P 285, Ontario, Canada 416-250-2850 416-250-5300 (fax) France Caincre les Maladies Lysosomales, 9, place du 19 mars 1962, 91035 Evry, France 33-60-91-75-00 33-69-36-93-50 (fax) Germany Gaucher Gesellschaft Deutschland, An der Ausschacht 9, 59556 Lippstadt, Germany 49-2941-21939 Israel Israeli Gaucher Patient Association, Century Towers Iben Gvirol 124, Tel Aviv 62038, Israel 972-3-522-6482 972-3-527-2166 (fax) Italy Associazione Italiana Gaucher, Piazza della Constituzione, 7, 50129 Florence, Italy 39-55-483744

68. Links To Other LSD Sites NIH’s NINDS Gaucher disease disease information and links Information and links about Gaucher disease – geared towards kids http//www.gaucherkids.com/ http://www.lsdn.com/links.htm

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69. Nutritional And Metabolic Diseases Gaucher s disease Service at Addenbrooke s (UK). Gaucher disease a case study companiom to Robbins Pathologic Basis of disease http://www.mic.ki.se/Diseases/C18.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Zellweger Syndrome Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The USDA Nutrient Database for Standard Reference - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and Food Color Facts , and a

70. PharmGKB: Gaucher Disease Alternate Names, Acute Neuronopathic Gaucher disease; Cerebroside Lipidosis Syndrome; Cerebroside Lipidosis Syndromes; Chronic Gaucher disease; http://www.pharmgkb.org/do/serve?objId=PA444258&objCls=Disease

71. Gaucher's Disease - Definition Of Gaucher's Disease By The Free Online Dictionar Definition of Gaucher s disease in the Online Dictionary. Meaning of Gaucher s disease. What does Gaucher s disease mean? Gaucher s disease synonyms http://www.thefreedictionary.com/Gaucher's disease

Domain='thefreedictionary.com' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia Gaucher's disease Also found in: Medical Columbia Wikipedia 0.03 sec. Page tools Printer friendly Cite / link Email Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin monogenic disease monogenic disorder - an inherited disease controlled by a single pair of genes lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body Mentioned in References in classic literature No references found No references found Dictionary/thesaurus browser Full browser gator Gatorade GATT Gatten tree ... gaucheness Gaucher's disease gaucherie gaucho gaud Gaud-day ... Gauche Socialiste Unifiée (French: Unified Socialist Left, Morocco)

72. MedlinePlus Medical Encyclopedia: Gaucher Disease Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in The infantile form of Gaucher disease may lead to early death. http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Gaucher disease Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Bone marrow aspiration Gaucher cell, photomicrograph Gaucher cell, photomicrograph #2 Hepatosplenomegaly Alternative names Return to top Glucocerebrosidase Deficiency; Glucosylceramidase Deficiency Definition Return to top Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in the buildup of a toxic substance (glucosylceramide) in different parts of the body, such as the spleen, liver, and bones. Causes, incidence, and risk factors Return to top Gaucher Disease is an inherited disorder that affects an estimated  1 in 50,000 to 1 in 100,000 people in the general population. Individuals of Eastern and Central European (Ashkenazi) Jewish heritage are at higher risk for being affected. Deficiency of the enzyme glucocerebrosidase causes the lysosomes to become congested with glucosylceramide. These congested lysosomes buildup in the liver, spleen, bones, and bone marrow. This, in turn, leads to decreased production of red blood cells (anemia), and thinning of the bones (osteopenia). It is an autosomal recessive disease. This means that an affected child would inherit two abnormal copies of the enzyme, one from the mother and one from the father. The parents are known as carriers since they do not have the disease, but silently harbor one abnormal copy of the gene.

73. Gaucher's Disease (Print Version) From the National Institutes of Health; Gaucher s disease (National Institute of Genetics; Genetics Home Reference Gaucher disease (National Library of http://www.nlm.nih.gov/medlineplus/print/gauchersdisease.html

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Gaucher's Disease URL of this page: http://www.nlm.nih.gov/medlineplus/gauchersdisease.html From the National Institutes of Health Gaucher's Disease (National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm Researching Disease: Dr. Roscoe Brady and Gaucher Disease (National Institutes of Health) - http://history.nih.gov/exhibits/gaucher/ Overviews Gaucher Disease (Center for Jewish Genetic Diseases) - http://www.mssm.edu/jewish_genetics/diseases/gaucher.shtml Gaucher's Disease (Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/invoke.cfm?id=AN00840 Diagnosis/Symptoms Diagnosis and Treatment (Center for Jewish Genetic Diseases) - http://www.mssm.edu/gaucher/diag.shtml Prevention/Screening Genetic Testing for Inherited Diseases (American Association for Clinical Chemistry) - http://www.labtestsonline.org/understanding/conditions/pregnancy-12.html

74. Gaucher Disease Type 1 Gaucher disease Type 1 is the most prevalent Jewish genetic disease. http://judaism.about.com/od/health/p/gaucher.htm

var zLb=9; zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Judaism World Jewry Today Health Gaucher Disease Type 1 Judaism Essentials Intro to Judaism Jewish Life Events ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Judaism newsletter! See Online Courses Search Judaism Stay up to date! Compare Prices Email to a friend ... Print this page About Jewish Genetic Disorders About Judaism: Jewish Genetic Disorders About Gaucher Disease About Healthcare: Gaucher Disease About Arthritis: Gaucher Disease About Rare Diseases: Gaucher Disease Elsewhere on the Web National Gaucher Foundation Children's Gaucher Research Fund Gaucher Disease Most Popular Hebrew Names - Naming a Jewish Baby Hebrew Names for Boys - Naming a Jewish Baby Basic Beliefs of Judaism - Judaism 101 Hurricane Katrina Prayer ... Why Bad Things Happen to Good People - Judaism What's Hot The Month of Elul - Jewish High Holidays Hurricane Katrina Prayer Levels of Tzedakah Hebrew Names for Girls ... Ask the Rabbi - Star of David - Magen David Gaucher Disease Type 1 Profile From Lisa Katz Your Guide to Judaism FREE Newsletter.

75. Mayenne Properties - What We Do my Dad was diagnosed with a very rare genetic disorder called Gaucher disease. There is no cure for Gaucher disease, but it is treatable and every week http://www.mayenneproperties.com/charity.asp

Kate's Story In June 2000 my Dad was diagnosed with a very rare genetic disorder called Gaucher Disease. There is no cure for Gaucher Disease, but it is treatable and every week my Dad had to infuse himself with a man made enzyme. Normally this enzyme is in everyone's blood, but it is missing in people with Gaucher Disease. Gaucher Disease causes most problems within the skeletal system. A lot of Gaucher cells group together and cause oxygen to stop following naturally through the bones. This happened to my Dad and part of his spine collapsed and he was in terrible pain. He had to go into hospital for seven weeks, even over the Christmas holiday, and have an operation to put metal plates in his back to support it. Gaucher Disease also causes the spleen and the liver to swell up to twenty times their normal size. This then causes problems within the blood. My Dad used to get bruises very easily and had to have many blood transfusions. The man made enzyme helps the body to get back to normal, although people with this disease have to do an infusion every week for the rest of their lives. Most people are able to lead relatively normal lives but sometimes have severe bone pain.

76. Gaucher Disease - WI, Milwaukee WI Gaucher disease Columbia St. Mary s Community Physicians of Wisconsin, Milwaukee, Ozaukee and Washington County. http://www.columbia-stmarys.org/13611.cfm

Print Search Send to a friend Home �Diseases, Conditions and Injuries Gaucher Disease Pronounced: go-shay disease by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Definition Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease: Type I � the most common type. It is found widely in people of Ashkenazi Jewish descent. Type II � very rare, but rapidly progressive form of Gaucher disease. Type III � very rare form. Most cases have been found in Sweden, Scandinavia, and Japan. Causes Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Instead of degrading naturally, glucocerebroside builds up in the spleen, liver, lungs, and bone marrow. In rare cases, it may also accumulate in the brain. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. The primary risk factor for Gaucher disease is having family members with the disease. Symptoms The three types of Gaucher disease vary in the onset and severity of symptoms. In general, the later the onset of symptoms, the less likely that symptoms will be severe.

77. SimulConsult Cases Blog: Gaucher Disease A bone marrow biopsy demonstrated Gaucher disease, which was classified as Even with only the first two findings, Gaucher disease type 3 is listed as http://simulconsult.com/neurologicalsyndromes/reports/gaucher2.html

Cases Blog: Gaucher Disease An account by a mother on the web site of The Gauchers Association M seemed much like the others, for sometime at least. Then ocular motor apraxia was diagnosed as a result of M 's unusual eye movements. We noticed them when she was nine months. I was not too worried, it did not seem like a big deal, interesting we were told. And then she started to choke which was very frightening the first time. Throwing her over my knee and pummelling her back became part of the meal time routine. ... an urgent appointment was made to see a paediatrician ... Having thoroughly examined M , he told us her liver and spleen were greatly enlarged and she would need further investigations. One of the doctors kept remarking how interesting her unusual motor skills were. We had also noticed she seemed stiffer in her upper body than other babies her age. A bone marrow biopsy demonstrated Gaucher disease, which was classified as type 3. Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes.

78. About Holy Name Hospital Home Page Mount Sinai Comprehensive Gaucher disease Treatment Center http//www.mssm.edu/gaucher/. Researching disease Dr. Brady Gaucher disease http://www.holyname.org/about_holy_name/resources.htm

- - - - Select - - - - Career Opportunities Foundation History Mission Volunteers Jewish Genetic Disorders Resources Canavan Dystonia Dysautonomia Fanconi Anemia ... Sites for Genetics Information and Disorder Information Canavan: Canavan Foundation http://www.canavanfoundation.org Canavan Research Illinois http://www.canavanresearch.org Canavan Research Foundation http://www.canavan.org United Leukodystrophy Foundation Contains information on Canavan Disease http://www.ulf.org Back to top Dystonia: Dystonia Medical Research Foundation http://www.dystonia-foundation.org http://www.dystonia-parkinsons.org Care 4 Dystonia http://www.care4dystonia.org Back to top Dysautonomia: Dysautonomia Foundation http://www.familialdysautonomia.org FD Village/FD Hope http://www.fdvillage.org National Dysautonomia Research Foundation http://www.ndrf.org Back to top Fanconi Anemia: Fanconi Anemia Research Fund, Inc. http://www.fanconi.org Fanconi Anemia UK http://www.fanconi-anaemia.co.uk Fanconi Canada http://fanconicanada.org Hope for Henry http://www.hsg.org Back to top Gaucher Disease: National Gaucher Foundation http://www.gaucherdisease.org

79. Guidelines For Magnetic Resonance Imaging (MRI) Assessment Of Gaucher Disease In The Gaucher disease Advisory Committee (GDAC) has asked that the following information be forwarded to treating doctors of Gaucher patients to assist in the http://www.health.gov.au/internet/wcms/publishing.nsf/Content/health-pbs-general

Skip to Search Skip to Banner Navigation Skip to Main Navigation Skip to Content Search Sitemap A-Z Index Links Contact Us ... Alternative Arrangements for Medicines Guidelines for Magnetic Resonance Imaging (MRI) Assessment of Gaucher Disease in adults The Gaucher Disease Advisory Committee (GDAC) has asked that the following information be forwarded to treating doctors of Gaucher patients to assist in the assessment of these patients by radiologists following an MRI. In order to assess marrow changes in patients with Type 1 Gaucher disease, who are receiving enzyme replacement therapy, serial MRI's are requested at annual intervals. The aim is to compare features with the previous images to detect changes, which might suggest clearing of the accumulated metabolite from bone marrow cells during the course of therapy. The GDAC has arranged for central reading of MR images in addition to primary reading by the radiologist performing the MRI study. 'Guidelines for MRI assessment of Gaucher Disease in Adults" written by Patsy Robertson are attached. It is important that the MR examinations are conducted in a standard fashion so that serial central reading will provide objective information for assessing response to enzyme replacement therapy. Patsy Robertson, February 2003

80. Gaucher Disease CHOICE For University Of Kansas Hospital Health and wellness services, medical information, and interactive health features for our user community. http://community.healthgate.com/GetContent.asp?siteid=kumc&docid=/dci/gaucher

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