Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

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Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S

Gaucher Disease: Clinical, Biological and Therapeutic Aspects.

Pathobiology. 2016;83(1):13-23. doi: 10.1159/000440865. Epub 2015 Nov 21.

PubMed ID
26588331 [ View in PubMed
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Abstract

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.

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