Fabry Disease

Studies from Charles University yield new information about fabry disease

Published in Gene Therapy Weekly, December 13th, 2007

"Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme alpha-galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but until now has been studied only in a few series of patients without any longitudinal follow-up," scientists in Prague, Czech Republic report.

"The aim of this study was to compare spirometric changes in AFD patients with a matched control population and to follow the subsequent progression of the disease. Fifty individuals (27 women, 23 men, mean age 40 +/- 14 years) with AFD from 14 families underwent a static spirometric...

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Source: Gene Therapy Weekly (2007-12-13)

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