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Type 1 Gaucher disease is an inherited genetic disorder. In Gaucher disease, an enzyme called glucocerebrosidase (gloo-ko-ser-uh- bro-SI-dase) is deficient. This enzyme’s job is to break down a fatty substance called glucocerebroside (gloo-ko-SER-uh-bro-side).
When this enzyme doesn’t work properly, glucocerebroside builds up in the cells. These enlarged cells accumulate in the organs (particularly the spleen and liver) and tissues. This accumulation makes the organs unable to function properly and causes the signs of Gaucher disease.
Gaucher disease affects both males and females equally. It is the most common genetic disease in Ashkenazi (eastern and central European) Jewish people.
Individuals who are affected may not show signs until well into adulthood, and severity of disease can vary a great deal.
In VPRIV clinical trials, specific laboratory measurements (hemoglobin concentration, platelet count, and liver and spleen volume) were evaluated and not general symptoms of type 1 Gaucher disease.
Type 1 Gaucher disease has an autosomal recessive inheritance pattern, so carriers do not have Gaucher disease but can pass it along to their biological children.
If both parents are carriers:
1. National Library of Medicine. National Institutes of Health. Gaucher disease. http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm. Accessed May 18, 2015.
2. GuggenbuhlP, GrosboisB, ChalèsG. Gaucher disease. Joint Bone Spine. 2008;75(2):116-124.
VPRIV® (velaglucerase alfa for injection) is a prescription medication indicated for long-term enzyme replacement therapy (ERT) for patients with type 1 Gaucher disease.