pediatrics
Gaucher Disease
Introduction
Gaucher disease is a Sphingolipidoses , an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside and related compounds. Symptoms and signs vary by type but are most commonly hepatosplenomegaly or central nervous system changes. Diagnosis is by DNA analysis and/or enzyme analysis of white blood cells. Treatment is enzyme replacement with glucocerebrosidase. For more information, see table Some Sphingolipidoses . See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism . Glucocerebrosidase normally hydrolyzes glucocerebroside to glucose and ceramide. Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells. Accumulation of Gaucher cells in the perivascular spaces in the brain causes gliosis in the neuronopathic forms. There are 3 types of Gaucher disease, which vary in epidemiology, enzyme activity, and manifestations. 