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Around one in 100 people in the general US population is a carrier for type I Gaucher's disease, giving a prevalence of one in 40,000. [40] Among Ashkenazi Jews, the rate of carriers is considerably higher, at roughly one in 15. [40] Type II Gaucher's disease shows no particular preference for any ethnic group. [citation needed]
General side effects of bicalutamide that may occur in either sex include diarrhea, constipation, abdominal pain, nausea, dry skin, itching, and rash. In men with prostate cancer, bicalutamide monotherapy has been found to increase the likelihood of death due to causes other than prostate cancer.
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Velaglucerase alfa, sold under the brand name Vpriv, is a medication used for the treatment of Gaucher disease Type 1. [1] It is a hydrolytic lysosomal glucocerebroside-specific enzyme, which is a recombinant form of glucocerebrosidase. It has an identical amino acid sequence to the naturally occurring enzyme. [2] It is manufactured by Shire plc.
Avascular necrosis (AVN), also called osteonecrosis or bone infarction, is death of bone tissue due to interruption of the blood supply. [1] Early on, there may be no symptoms. [1] Gradually joint pain may develop, which may limit the person's ability to move. [1] Complications may include collapse of the bone or nearby joint surface. [1]
Rarely, drugs (antibiotics, blood pressure medication, heart medication) can cause pancytopenia. For example, the antibiotic chloramphenicol can cause pancytopenia in some individuals. [1] Rarely, pancytopenia may have other causes, such as mononucleosis or other viral diseases. Increasingly, HIV is itself a cause of pancytopenia. [2]
The most common side effect is hypersensitivity, which occurs in about 3% of patients. It is associated with symptoms such as cough, shortness of breath, rashes, itching, and angiooedema. Less common side effects include dizziness, headache, nausea, diarrhea, and reactions at the injection site; they are found in less than 1% of patients. [4]
β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]