pediatrics
Gaucher Disease
Key Points
Gaucher disease is a sphingolipidosis resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside. There are 3 types, which vary in epidemiology, enzyme activity, and manifestations. Symptoms and signs vary by type but are most commonly hepatosplenomegaly or central nervous system changes. Diagnosis of Gaucher disease is by DNA analysis and/or enzyme analysis of white blood cells; carriers are detected, and types are distinguished by mutation analysis. Treatment for types I and III include enzyme replacement with glucocerebrosidase, and sometimesmiglustat,eliglustat, splenectomy, or stem cell or bone marrow transplantation; there is no treatment for type II. 