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Gaucher Disease Research Paper

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Gaucher (Gaucher’s) Disease is a lipid (fatty material) storage disease that affects the metabolic system. The disease is caused by a deficiency with the glucocerebrosidase (GBA) gene which provides directions on making an enzyme. The deficiency complicates the storing or break down of fatty substances properly. The enzyme that the GBA gene produces, beta-glucocerebrosidase, is active in lysosomes which are a structure in cells that act as recycling centres as it digests bacteria and recycles decaying cell components. This housekeeping enzyme breaks down glucocerebrosidase into glucose and ceramide which is fat.

Gaucher Disease is inherited in families when two copies of the abnormal gene is present. The disease is inherited in an autosomal …show more content…

Type 1 of Gaucher Disease does not affect the central nervous system, more importantly the brain. Type 1 is the most common type, the condition of the disease can range from mild to severe and symptoms can appear anytime. The signs and symptoms of the disease can include easy bruising, fatigue, enlarged spleen or liver, bone problems, low red blood cells and lung disease. Medication and an enzyme replacement could treat this common type of Gaucher Disease depending on the severeness of the disease.

Type 2 of Gaucher Disease, also known as acute neuronopathic Gaucher Disease, affects the central nervous system and symptoms are faster to appear. This type affects a human from infancy and is very life threatening. Humans that are diagnosed with type 2 usually do not live past infancy. In contrast of type 2, type 3 of Gaucher Disease (chronic neuronopathic Gaucher Disease) is slower and symptoms show later in childhood.

Type 2 and 3 share similar signs and symptoms and they include abnormal eye movement and growth, seizures, enlarged spleen or liver as well as brain problems.
There is no cure for type 2 however, for type 3 it is possible to have an enzyme replacement, joint replacement, surgery to remove swollen spleen and medication that strengthens bones, prevent fatty buildup and eases

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