What is Gaucher Disease?

Gaucher disease (GD) is an inherited disorder of metabolism due to a deficiency in the enzyme glucocerebrosidase which leads to the accumulation of the substrate glucosylceramide (a type of fat) in certain organs. GD is inherited in an autosomal recessive manner where both parents must be carriers of a Gaucher mutated gene for their child to inherit the condition. General manifestation of GD usually includes the widespread presence of Gaucher cells, enlargement of liver and spleen, anemia (low blood counts), bone complications, and sometimes includes interstitial lung disease and pulmonary hypertension.