Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease

When to start children with Fabry disease on therapy is controversial because of its expense and inconvenience. Many Fabry children complain of exercise intolerance. In adults, the investigators have found decreased lung function and ability to exercise on a treadmill. Whether or not lung function and exercise capacity is abnormal in children is unknown. While lung function and exercise tests are commonly part of routine evaluations for adults with Fabry, they are not yet for children. The objective of the proposed study is to more accurately define the lung and exercise abnormalities in a group of 20 boys from 8-18 years of age with Fabry disease who have not been treated with enzyme replacement therapy (Fabrazyme).