Health is wealth
Gaucher disease
October 18th 2011 06:34
Gaucher (pronounced Go-SHAY) disease is a rare genetic disorder affecting fewer than 10,000 people worldwide. It is caused by deficiency of the enzyme glucocerebrosidase, which breaks down a certain lipid, or fat, in the body's cells called glucocerebroside. Without this enzyme, the lipid builds up, causing the disease's symptoms. Symptoms include anemia, fatigue, and enlarged liver and spleen. Patients can also suffer from easy bleeding and bruising, and deterioration of bones, leading to frequent fractures.
The only therapy for Type 1 Gaucher disease is Cerezyme* (imiglucerase for injection), a recombinant drug developed by Genzyme General of Cambridge, Mass. Cerezyme stops and reverses the symptoms of Gaucher disease, allowing patients to live normal, healthy lives. Cerezyme and its predecessor, Ceredase*, have been available for nearly 10 years. Gaucher disease is the most prevalent lysosomal storage disorder, caused by an inherited enzymatic defect with consequent accumulation of undegraded glucocerebroside in monocyte-macrophage cells, the so-called Gaucher cells. Diagnosis of the disease is via assay of decreased glucocerebrosidase activity in peripheral blood samples, in conjunction with DNA mutation analysis. Nonetheless, neither quantity of residual activity nor specific genetic makeup (genotype) can accurately predict the type or degree of severity of the disease (phenotype), except in a broad sense.
The only therapy for Type 1 Gaucher disease is Cerezyme* (imiglucerase for injection), a recombinant drug developed by Genzyme General of Cambridge, Mass. Cerezyme stops and reverses the symptoms of Gaucher disease, allowing patients to live normal, healthy lives. Cerezyme and its predecessor, Ceredase*, have been available for nearly 10 years. Gaucher disease is the most prevalent lysosomal storage disorder, caused by an inherited enzymatic defect with consequent accumulation of undegraded glucocerebroside in monocyte-macrophage cells, the so-called Gaucher cells. Diagnosis of the disease is via assay of decreased glucocerebrosidase activity in peripheral blood samples, in conjunction with DNA mutation analysis. Nonetheless, neither quantity of residual activity nor specific genetic makeup (genotype) can accurately predict the type or degree of severity of the disease (phenotype), except in a broad sense.
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