Gaucher disease agents

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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


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Urea Cycle Disorder Agents

Hematologic Agents

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