Journal
PATHOBIOLOGY
Volume 83, Issue 1, Pages 13-23Publisher
KARGER
DOI: 10.1159/000440865
Keywords
beta-Glucocerebrosidase; Lysosomal storage disease; Gaucher disease; Therapeutic aspect
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We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme beta-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. Clinical signs and symptoms include neurological dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia and thrombocytopenia. Enzyme replacement therapy with recombinant GBA is the mainstay of treatment for GD, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions. (C) 2015 S. Karger AG, Basel
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