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Curr Chem Genomics. 2010 Jul 23;4:50-6. doi: 10.2174/1875397301004010050.

Fabry disease - current treatment and new drug development.

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Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3708, Bethesda, MD 20894-3708, USA.


Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, are currently being explored. High throughput screening (HTS) technologies can be utilized to discover other small molecule compounds, including non-inhibitory chaperones, enzyme activators, molecules that reduce GLA substrate, and molecules that activate GLA gene promoters. This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease.


Alpha-Galactosidase; Chaperone Therapy; Drug Development.; Fabry Disease; High Throughput Screening; Lysosomal Storage Disorders

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