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Recent News and Articles on the Keywords: gaucher's disease + gaucher disease + disease  Related to the article below (Last Update: 8/5/2008)

Amicus Therapeutics Announces Successful Completion Of End Of ... Medical News Today (press release), UK - 31 minutes ago ... disease and is conducting Phase 2 clinical trials of Plicera(TM) for the treatment of Gaucher disease and AT2220 for the treatment of Pompe disease. ...FOLD Wall Street Journal Blogs Big Pharma reaps rewards of a focused strategy Financial Times, UK - Jul 31, 2008 Thus, previously near-unheard of illnesses such as gastrointestinal stromal tumours, Fabry's disease, Gaucher disease and mantle cell lymphoma are now high ... Hey, Drug Resarchers, Lotsa Luck! Wall Street Journal Blogs A balanced approach needed over drugs innovation Financial Times all 6 news articles » Growing Up And Out Worcester Business Journal, MA - Aug 3, 2008 ... a new drug delivery technology for Gaucher?s Disease and another came up with a proprietary platform for making pharmaceutical grade therapeutic cells. ... Analyst Blog Amicus Pipeline Still Early Zacks.com, IL - Jul 31, 2008 Amicus Therapeutics (FOLD) has three lead candidates: Amigal in phase II for Fabry disease, Plicera in phase II for Gaucher disease, and AT2220 in phase I ... Zacks Analyst Blog Highlights: Charlotte Russe Holding Inc., EOG ... Business Wire (press release) all 7 news articles »  FOLD - EOG - CHIC Shire Delivers Strong Quarter: Driven by $243m of New Product ... MarketWatch - Jul 31, 2008 Velaglucerase alfa - Gaucher disease - Shire has completed enrolment in a worldwide Phase 3 clinical program for velaglucerase alfa, an enzyme replacement ...SHPGY ViroPharma: Lev Acquisition Appraisal Seeking Alpha, NY - Aug 3, 2008 Prophylactic treatment in Gaucher disease is widely accepted, as continued buildup of lipids eventually leads to organ failure. In the case of HAE, ...VPHM - OTC:LEVP Amicus Therapeutics Announces Second Quarter 2008 Results Release Date CNNMoney.com (press release) - Jul 31, 2008 ... of Fabry disease and is conducting Phase 2 clinical trials of Plicera for the treatment of Gaucher disease and AT2220 for the treatment of Pompe disease.FOLD Pulmonary Langerhans Cell Histiocytosis and Other Pulmonary ... RedOrbit, TX - Jul 16, 2008 Gaucher disease, the most prevalent lysosomal storage disorder, is an autosomal recessive lipid storage disease caused by glucocerebrosidase ... NEW AMERICA Investor's Business Daily (subscription) - Jul 15, 2008 The injectable drug treats Gaucher's disease, a rare condition that inhibits the body's ability to process fat. Cerezyme has long been Genzyme's sales ... Investigating Jewish Genetic Illnesses Connecticut Jewish Ledger, CT - Jul 24, 2008 ... genetic diseases more common among Ashkenazi Jews such as Bloom's Syndrome, Canavan Disease, Familial Dysautonomia, Fanconia Anemia, Gaucher Disease, ...

Gaucher's Disease

Gaucher's disease is one of several lysosomal storage disorders that involve an inability to metabolize certain essential compounds in the body. This genetic disorder causes a lipid composed of a ceramide and glucose to accumulate in the tissues, enlarging both the liver and the spleen. It also causes brown spots on the skin, skeletal lesions and raised, yellowish areas near the inner and outer margins of the cornea. Although uncommon, Gaucher's disease is the lipidosis seen most often by physicians.

There are three major forms of Gaucher's disease:

• Type I, the adult chronic nonneuronopathic form, is the most common and is manifested primarily by an enlarged spleen and bone lesions
• Type II, the acute infantile neuronopathic form, is associated with an enlarged spleen, severe neurologic abnormalities and death - usually within the first two years of life
• Type III, which may occur anytime in childhood and combines the features of the adult chronic form with slowly progressive but usually milder neurologic dysfunction. Patients who survive to adolescence may live for many years.

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A patient usually experiences an enlarged spleen, but an enlarged liver and lymphadenopathy can also occur. If the bones are involved, the patient may have pain and swelling of the joints. Brown spots on the skin or raised, yellowish spots on the inner and outer edges of the cornea may also be present.

In infants, the disease is more acute. Stiffness of the neck and spasms of the back that cause the head and the lower limbs to bend backward and the trunk to arch forward may occur.

The involvement of the spleen and bone marrow may result in an abnormal lowering of the number of red blood cells, white blood cells and blood platelets. Nosebleeds or other types of blood loss may occur as there are fewer blood platelets. X-rays show flaring of the ends of the long bones and cortical thinning.

This genetic condition is caused by a metabolic failure to break down a chemical in the body, which leads to the chemical (glucocerebroside) collecting in the tissues. This abnormal storage causes the cells to vary in shape and have one or several eccentrically placed nuclei. These cells are found in the liver, spleen, lymph nodes and bone marrow.

The following are ways in which Gaucher's disease is diagnosed:

• Analysis of cells from bone marrow, the spleen or the liver
• Demonstrating the lack of glucocerebrosidase activity in cells
• Prenatally, Gaucher's diseases can be diagnosed by amniocentesis or chorionic villi sampling
• DNA testing

Gaucher's disease may be treated by:

• Replacing the missing enzyme intravenously in patients to type I disease
• Removal of the spleen, in cases where the patient is anemic has leucopoenia or low blood platelets. Anemic patients may also need transfusions.