Acute neuronopathic Gaucher's disease

Overview

Type of disease: Rare conditions

Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Liver and spleen enlargement are often apparent by 3 months of age. Patients typically develop extensive and progressive brain damage and many die by 2 years of age. Gaucher disease type 2 is caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern. While enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.