Gaucher s Disease
Gaucher Disease is a rare, inherited metabolic disorder caused by the deficient production of the enzyme glucocerebrosidase, which leads to the build-up of certain fats in the organs and bones. This build-up of fats can cause a wide range of symptoms, including enlarged spleen and liver, fatigue, anemia, low platelet count, and bone pain. It is known to affect the central nervous system as well. Gaucher Disease is one of the most common genetic metabolic disorders and is seen in both genders across all ethnic backgrounds. Treatment for Gaucher Disease often involves enzyme replacement therapy, or ERT. ERT helps to restore the deficient enzyme in the affected person to a more normal level, allowing them to manage their symptoms and improve their overall quality of life.
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