Gaucher disease

A new disease profile is added to our database – Gaucher disease. Gaucher disease is the most common disorder among the lysosomal storage diseases. It has an autosomal recessive way of inheritance. The deficiency of the enzyme gluco cerebrosidase causes accumulation of the lipid glucocerebrosid into lysosomes of the macrophages, also called “Gaucher cells”. The disease is characterized by anemia, thrombocytopenia, hepatosplenomegaly, bone changes, growth and mental delay. When untreated it leads to irreversible disability and early mortality. The causative gene for the three types of the disease, GBA (acid beta-glucosidase), has been mapped to 1q21. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request.The profile was written by our consultant in genetics – Prof. Dr. Margarita Stefanova, MD, PhD.