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Gaucher Disease

Gaucher disease is a rare lysosomal storage disease with autosomal recessive transmission. Its prevalence in the general population is between 1:57,000 and 1:111,000.

The disease is due to the deficiency of an enzyme (glucocerebrosidase) and the lack of metabolism of its substrate (glucocerebroside), which is consequently accumulated in the liver, spleen, and bone marrow: the accumulation of this substance in these organs is responsible for the main signs of the disease.

The disease is divided into three subtypes:

– Gaucher disease type 1, the least severe, characterized by variable onset, hepatosplenomegaly, anaemia, bone pain and exhaustion

– Gaucher disease type 2, which begins in the neonatal period with very severe neurological complications and a very poor prognosis

– Gaucher disease type 3, which begins in infancy with chronic neurological symptoms that tend to worsen with age

As for Gaucher disease type 1, its manifestations, alone or in combination, reduce the patient’s physical endurance and quality of life, as they may limit or prevent participation in school, work or recreational activities. If left untreated, the disease can progress into an irreversible debilitating condition and lead to permanent disability.

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