Causes and Risks Gaucher Disease is a rare, inherited, potentially fatal disorder. It is the most common type of a group of diseases known as Lysosomal Storage Diseases.
Lysosomes are organelles in which macromolecules are degraded by specific enzymes.
Deficiency of CGR causes the lysosomes to become congested with glucocerebroside. It is an autosomal recessive disease. This means that an affected child would inherit two abnormal copies of the enzyme, one from the mother and one from the father. Type 1 disease is the most commonly seen affecting both children and adults. It is most prevalent in the Ashkenazi Jewish population affecting anywhere from 1 out of 500-1,000 births.