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Updated: Jul 17, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy
Woojin Kim1, Reed E Pyeritz, Barbara A Bernhardt
1Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, USA. KimWooji@uphs.upenn.edu
Abstract:
Fabry disease affects multiple organs, including the lungs. To date, there have been no reports of the effect of enzyme replacement therapy on patients with pulmonary manifestations of the disease. We report on a case of marked improvement of pulmonary signs and symptoms in a patient with Fabry disease following enzyme replacement therapy. A 38-year-old female with Fabry disease presented with dyspnea requiring constant supplemental oxygen. Following bi-weekly treatment with agalsidase beta, she demonstrated marked improvement in her pulmonary symptoms, eventually no longer needing supplemental oxygen and returning to an active lifestyle. Improvement was seen on pulmonary function tests and chest CT examinations. Enzyme replacement therapy may alleviate pulmonary dysfunction in patients with Fabry disease.
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