Gaucher's disease

Gaucher's Disease also known as sphingolipidosis, is a disease of lysosomal overload, frequently present in Ashkenazi Jews, related to a glucocerebrosidase enzyme deficiency due to an autosomal recessive mutation of the gene related to the enzyme β-glucosidase, and leads to an accumulation of its substrate, the glucocerebroside (a sphingolipid) in particular in the nervous system but also in the spleen, liver, lungs, bone marrow. The manifestations of this disease are very variable, from the lethal form at birth to the total absence of signs. The identification of five types of Gaucher disease allows us to determine the prognosis and the course of action.

Cardiopulmonary complications are encountered in all forms but with varying degrees of severity.