Author: Tsuboi, K.

Source: The Journal of International Medical Research, Volume 35, Number 4, July 2007 , pp. 574-581(8)

Publisher: Field House Publishing

Abstract:

Fabry's disease, a disorder affecting the gene for the lysosomal enzyme α-galactosidase A (α-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells. Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys. Human recombinant α-GAL A for use as an enzyme replacement therapy was launched in Japan in April 2004. Eleven ambulatory patients with Fabry's disease were given replacement α-GAL A therapy. Three patients died due to factors associated with Fabry's disease. The enzyme replacement therapies in the remaining eight patients continued safely without any notable adverse events. The following were observed: a lowering of the plasma levels of GL-3 in seven cases, an improvement in the daily activities in six cases, and a reduction in corneal clouding in three cases. Although careful observation is necessary, these results suggest that replacement α-GAL A therapy may be a safe and effective treatment of Fabry's disease.

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Keywords: ALPHA-GALACTOSIDASE; AGALSIDASE BETA; ENZYME REPLACEMENT THERAPY; FABRY'S DISEASE; LYSOSOMAL DISEASE

Document Type: Case report

Affiliations: 1: Department of Haematology, Nagoya Central Hospital, Nagoya, Japan

Publication date: 2007-07-01

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