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When do symptoms of Gaucher disease first appear?
GaleEncyofMedicine
Symptoms of Gaucher disease can start in infancy, childhood, or adulthood.
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Who discovered the Gaucher's disease?
Gaucher disease is the most common lysosomal storage disease. It was named for the French physician Phillipe Gaucher who first described it in 1882. The disease is caused by a lack of glucocerebrosidase, which causes a buildup of glucocerebroside in the tissues.
What is the most serious form of Gaucher disease?
Type 2 Gaucher disease is more serious, beginning within the first few months after birth.
How did Gaucher's disease get its original name?
Tay-Sachs was named after Wamen Tay and Bernard Sachs Correction: Tay-Sachs was named after Warren Tay and Bernard Sachs
What happens in Gaucher disease?
In Gaucher disease, the specific type of lipid that accumulates is called a glucosylceramide. Deficient activity of an enzyme called beta-glucosidase results in glucosylceramide accumulation throughout the body and damage to normal tissues and organs.
When do symptoms of narcolepsy usually begin to appear?
usually appear during the teens or 20s, the disease may not be diagnosed for many years. Most often, the first symptom is an overwhelming feeling of fatigue
Are there any treatments for gauchers disease?
In 1991, enzyme replacement therapy became available as the first effective treatment for Gaucher disease. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravenously. Performed on an outpatient basis, the treatment takes about 1-2 h and is given every 2 weeks. Enzyme replacement therapy can stop and often reverse the symptoms of Gaucher disease, allowing patients to enjoy a better quality of life http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.227
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