The genetic defect causes a deficiency of the enzyme glucocerebrosidase that is responsible for breaking down a certain type of fat and releasing it from fat cells.
The organelle associated with Gaucher's disease is the lysosome. This genetic disorder is caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of a fatty substance called glucocerebroside within the lysosomes of cells, particularly in macrophages.
Gaucher disease is caused by a genetic defect in an enzyme called glucocerebroside. There are four different types of this disease. For more information about Gaucher disease visit Answers.com
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
Krabbe's disease is caused by a deficiency of the enzyme galactoside beta-galactosidase.
The symptoms of Gaucher disease can be stopped and even reversed by treatment with injections of enzyme replacements.
The drug cerezyme is prescribed for people who have Type 1 Gaucher disease because they have a deficiency in the enzyme glucocerebrosidase. This can result in an enlarged spleen and bone disease.
Secondary enzyme deficiency is caused by factors such as disease, medication, or surgery that disrupt normal enzyme function. These factors can lead to a reduction in the production or activity of enzymes, resulting in deficiency and impaired biochemical reactions in the body.
The newest form of treatment for Gaucher disease is enzyme replacement therapy, in which GC can be administered intravenously. The enzyme can be prepared either by purification from placentas (alglucerase) or by.
cystic fibrosis, Gaucher's disease, and celiac disease.
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
Two enzyme drugs currently available are alglucerase (Ceredase) and imiglucerase (Cerezyme).
Gaucher disease may be suspected based on symptoms and is confirmed with a blood test for levels of the enzyme. Samples of tissue from an affected area may also be used to confirm a diagnosis of the disease.