2. Disease at-a-Glance


Gaucher Disease is a deficiency of the enzyme glucocerebrosidase - acid b glucosidase is another term for it, and where there is deficiency of this enzyme it leads to florid accumulation of this lipid in lysosomes of macrophages. It can occur at any age from infancy up to the 8th or 9th decade, and the progression can be highly variable. Early age of onset indicates a greater likelihood of aggressive disease, and it can also be life-threatening at any age. It is an autosomal recessive disease, hence you need mutations on both alleles of the enzyme gene that codes for the enzyme, and it is present in every ethnicity in the world. Overall in the population the frequency of this disease is 1 in 40,000 but among the Ashkenazi jewish people it is extremely common - it can occur in as many as 1 in 450 individuals in that particular ethnic group and so for New York Tri-State area, for pediatricians in the United States this is a very important disease.




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