Gaucher's Disease

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Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.

There are three types:

  • Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
  • Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
  • In type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually.

Gaucher's disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2.

NIH: National Institute of Neurological Disorders and Stroke

Provided by: NIH - National Institute of Health

Links shared publicly online about this topic

NGF - Gaucher Disease Awareness Month

gaucherdisease.org — “My name is Karina V?squez Fuentes. I am 29 and I suffer from Gaucher DiseaseView full resource at gaucherdisease.org

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Most Recently Shared on October 28, 2011 at 2:30 pm By:

GenzymeCorp Genzyme Corporation Pharma

October is Gaucher Awareness Month. To better understand this rare disease, read Karina Vásquez Fuentes’s story: http://t.co/Gq5WZBnJ

7 months ago...

Gaucher disease: FDA approves VPRIV

news-medical.net — “The U.S. Food and Drug Administration has approved velaglucerase alfa for injection (VPRIV) to treat children and adults with a form of the rare genetic disorder Gaucher disease.View full resource at news-medical.net

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Most Recently Shared on February 27, 2010 at 4:57 am By:

Stroke_News News-Medical.Net Health News

Stroke News: Gaucher disease: FDA approves VPRIV: The U.S. Food and Drug Administration has approved velaglucera... http://twurl.nl/zaidct

2 years ago...

Elelyso Approved for Gaucher Disease --Doctors Lounge

doctorslounge.com — “Elelyso Approved for Gaucher Disease --Doctors LoungeView full resource at doctorslounge.com

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Most Recently Shared on May 2, 2012 at 4:14 am By:

Vpriv available for Type 1 Gaucher disease - ONA

oncologynurseadvisor.com — “Shire announced that Vpriv (velaglucerase alfa for injection) has been FDA approved and made available for the treatment of Type 1 Gaucher disease.View full resource at oncologynurseadvisor.com

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Most Recently Shared on March 1, 2010 at 4:13 pm By:

FDA Approves VPRIV to Treat Gaucher Disease

drugs.com — “VPRIV (velaglucerase alfa) is used to treat Gaucher disease. Includes VPRIV side effects, interactions and indications.View full resource at drugs.com

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Most Recently Shared on February 28, 2010 at 5:02 am By:

drugscom Drugs.com Health Site

FDA Approves VPRIV to Treat Gaucher Disease - http://bit.ly/dATgn7

2 years ago...

Gastro Medical News about Gaucher Disease

mdlinx.com — “The US Food and Drug Administration Approves a New Gaucher Disease DrugView full resource at mdlinx.com

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Most Recently Shared on June 8, 2010 at 7:54 pm By:

MDLinx Sandeep Pulim MD Doctor, Health Communicator, and Physician

The US Food and Drug Administration Approves a New Gaucher Disease Drug: Gastroenterology http://bit.ly/d1S9dg #GI

2 years ago...

FDA Approves Therapy To Treat Gaucher Disease

tweetmeme.com — “The U.S. Food and Drug Administration has approved velaglucerase alfa for injection (VPRIV) to treat children and adults with a form of the rare genetic disorder Gaucher disease. Gaucher disease occurs in people who do not produce enough of an enzyView full resource at tweetmeme.com

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Most Recently Shared on February 27, 2010 at 2:49 pm By:

Scientists shed light on potential treatment for Gaucher's disease

sciencedaily.com — “In findings that advance scientists' understanding of a whole class of inherited disorders, a research team has shed light on a mechanism that enables a potential treatment for Gaucher's disease and other lysosomal storage diseases.View full resource at sciencedaily.com

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Most Recently Shared on May 10, 2010 at 3:06 am By:

sciencedaily sciencedaily Health News

Scientists shed light on potential treatment for Gaucher's disease: In findings that advance scientists' understan... http://bit.ly/c75LfG

2 years ago...

FDA Denies Gaucher's Disease Drug; High Jewish Incidence

medicalnewstoday.com — “Gaucher's disease is the most common genetic disease affecting Ashkenazi Jewish people (Eastern, Central and Northern European ancestry), with a carrier frequency of ten percent. Today however, aView full resource at medicalnewstoday.com

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Most Recently Shared on February 25, 2011 at 8:16 pm By:

mnt_healthnews MNT Health News Health News

FDA Denies Gaucher's Disease Drug; High Jewish Incidence http://mnt.to/3RDx #healthnews

1 year ago...

Cheaper, More Effective Treatment of Type 1 Gaucher Disease Possible

opa.yale.edu — “Cheaper, More Effective Treatment of Type 1 Gaucher Disease PossibleView full resource at opa.yale.edu

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Most Recently Shared on October 20, 2010 at 4:21 pm By:

Elelyso Approved for Type 1 Gaucher Disease --Doctors Lounge

doctorslounge.com — “Elelyso Approved for Type 1 Gaucher Disease --Doctors LoungeView full resource at doctorslounge.com

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Most Recently Shared on May 2, 2012 at 12:04 am By:

Healthy Living: Gaucher's disease - YNN, Your News Now

rochester.ynn.com — “Healthy Living: Gaucher's disease - YNN, Your News NowView full resource at rochester.ynn.com

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Most Recently Shared on September 5, 2011 at 9:24 pm By:

HealthyLivingOW Healthy Living OW OW Health

Healthy Living: Gaucher's disease: She was supposed to be their star, but now she's battling disease. In today's... http://t.co/2t3lrMZ

9 months ago...

Phase 2 Trial Update of Eliglustat for the Treatment of Gaucher Disease - MPR

empr.com — “Genzyme announced four-year follow-up data from its Phase 2 clinical trial of eliglustat tartrate for the treatment of Gaucher disease type 1.View full resource at empr.com

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Most Recently Shared on February 8, 2012 at 8:35 pm By:

eMPR MPR Medical Publisher

Phase 2 Trial Update of Eliglustat for the Treatment of Gaucher Disease http://t.co/cYnJCTvf #hematology

4 months ago...

Cheaper, more effective treatment of type 1 Gaucher disease possible

labspaces.net — “Researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder in which fatty substances called glycosphingolipids accumulate in cells, resulting in liver/spleen enlargement, osteoporosis, bone pain, and increased risk of cancer and Parkinson's disease.View full resource at labspaces.net

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Most Recently Shared on October 20, 2010 at 5:20 pm By:

LabSpaces Brian Krueger Health News

Cheaper, more effective treatment of type 1 Gaucher disease possible - http://is.gd/g9XvV

2 years ago...

Gaucher Disease - Physiopedia - The physiotherapy and physical therapy wiki and encyclopaedia

physio-pedia.com — “Written by physiotherapists and physical therapists for the physiotherapy and physical therapy profession, the aim is to create an international on-line resource for accessible for all rehabilitation and health care professionals.View full resource at physio-pedia.com

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Most Recently Shared on February 28, 2011 at 5:15 pm By:

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