Glucocerebrosidase deficiency Treatment in Hyderabad

overview

Gaucher’s disease (go-SHAY) is the result of the build-up of certain fatty substances in certain organs, especially in the spleen and liver. These organs grow larger and can interfere with their function.

Fats can also build up in bone tissue, weakening the bone, and increasing the risk of fractures. If the bone marrow is affected, it can affect the ability of your blood to clot.

An enzyme that breaks these fats down doesn’t work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.

Gaucher’s disease is a hereditary disease and is most common among Jews of Central and Eastern European (Ashkenazi) origin. Symptoms can appear at any age. Glucocerebrosidase deficiency Treatment in Hyderabad

symptoms

There are different types of Gaucher disease, and the signs and symptoms of the disease vary widely, even within the same type. Type 1 is by far the most common.

Siblings, including identical twins, with the disease can have varying degrees of severity. Some people with Gaucher disease have mild or no symptoms.

Most people with Gaucher disease have the following problems to varying degrees:

The reasons

Risk factors

People of Jewish (Ashkenazi) descent from Eastern and Central Europe are at a higher risk of developing the more common variant of Gaucher disease.

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