Monday, July 28, 2014

The Symptoms of Gauche Disease

Pain, fatigue and bulkier bodies

CELL. Gaucher disease is a disease called "lysosomal storage". In the cell, contains the lysosome enzymes to degrade numerous organic molecules. Or an enzyme missing in patients with Gaucher: glucocerebrosidase. And this is not without consequences for these patients, since the most common conditions are pain, including bone crises, fatigue, the presence of enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly).

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Note that there are more than 50 lysosomal storage disease and Gaucher disease is the most common.

Comparison to a lysosome in a cell (macrophage) in a healthy and Gaucher said cell. © GaucherFrance

TRANSMISSION. Gaucher disease is a disease of genetic , autosomal recessive. This means that for a child is sick, both the father and mother must disclose the mutated allele. If only one of them passes him the mutated allele, then the child will not get sick.

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