Gaucher disease agents

From WikiMD
Jump to navigation Jump to search

Information about Gaucher disease agents

Gaucher disease is genetic, multisystem disease caused by an inherited deficiency in the lysosomal enzyme, β-glucocerebrosidase. The disease is named for the French physician who first described it (Philippe Gaucher: 1882). Clinical features include anemia, thrombocytopenia, enlargement of the liver and spleen and bone dysplasia. Some forms have neurologic involvement as well. Symptoms are caused by the accumulation of glucosylceramide in lysosomes of the reticuloendothelial system, predominantly in macrophages of bone, liver and spleen.

Types of Gaucher disease agents

Gaucher disease is categorized into three clinical forms. Type 1 or adult, non-neuropathic Gaucher disease is the most common form and typically presents with splenomegaly, anemia and thrombocytopenia in adolescence or adulthood. Type 2 or acute infantile neuropathic Gaucher disease presents in the perinatal period with enlargement of the liver and spleen, and progressive neurologic involvement and disability leading to death in the first years of life. Type 3 or childhood, chronic neuropathic Gaucher disease is intermediate in severity between types 1 and 2, and presents in childhood or early adulthood with neurologic and liver involvement which can be progressive.


Gaucher disease affects an estimated 1 in 50,000 to 100,000 persons, over 90% being type 1. Therapies have been developed for type 1 Gaucher disease which ameliorate its course and improve symptoms. There is no specific cure of Gaucher disease.

Mechanism of action of Gaucher disease agents

The initial and now standard therapy of Gaucher disease is enzyme replacement, based upon regular infusions of the missing enzymes, glucocerebrosidase. The active enzyme can be prepared from human tissue (placentas) or produced by recombinant DNA technology. Recently, new approaches to therapy have been introduced including substrate restriction, based upon inhibiting enzymes upstream of glucocerebrosidase and, thus, limiting the damaging accumulation of its ultimate harmful substrate, glucosylceramide, which normally is metabolized to glucocerebroside upon which the enzyme acts. Future therapies might employ drugs that modify the folding or trafficking of glucocerebrosidase inside the cell, making it more effective. Ultimately, gene therapy to replace the abnormal enzyme may become a reality.

genetic disorder agents

cystic fibrosis agents

enzyme replacement therapy

glucosylceramide synthase inhibitors (substrate restriction therapy)

lysosomal acid lipase deficiency agents


homocystinuria agents

Huntington disease agents

Monoclonal Antibodies

Tyrosinemia Agents

Urea Cycle Disorder Agents

Hematologic Agents

This article is a stub. YOU can help Wikimd by expanding it!

Articles on Gaucher disease agents


Learn more about Gaucher disease agents

Help WikiMD

Find something you can improve? Join WikiMD as an an editor and help improve this page or others.

Apple bitten.svg

WikiMD is a free medical encyclopedia and wellnesspedia moderated by medical professionals.

W8MD logo

Ad. Tired of being overweight?. W8MD's insurance weight loss can HELP*

Lose weight King of Prussia, PA | Lose weight NYC | Lose weight NJ | Lose weight Philadelphia | Advertise

Quick links: Medicine Portal | Encyclopedia‏‎‏‎ | Gray's Anatomy‏‎ | Topics‏‎ |‏‎ Diseases‏‎ | Drugs | Wellness | Obesity‏‎ | Metabolic syndrome | Weight loss*
Disclaimer: The entire contents of WIKIMD.ORG are for informational purposes only and do not render medical advice or professional services. If you have a medical emergency, you should CALL 911 immediately! Given the nature of the wiki, the information provided may not be accurate, misleading and or incorrect. Use the information on this wiki at your own risk! See full Disclaimer.
Link to this page: <a href="">Gaucher disease agents</a>

  • Individual results may vary for weight loss from our sponsors.

Our sponsors WikiMD is supported by W8MD weight loss, sleep and medical aesthetic centers.