Michael Beck1. 1. Children's Hospital, University of Mainz, Germany. beck@kinder.klinik.uni-mainz.de
Abstract
UNLABELLED: Fabry disease is a rare lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A. The resultant storage of undegraded glycolipids leads to the progressive development of potentially life-threatening manifestations affecting multiple organ systems in the body. This paper describes the development of the Mainz Severity Score Index (MSSI), a scoring system for patients with Fabry disease. CONCLUSION: The MSSI score has been proven to be representative in patients with 'classic' Fabry disease and may be useful for monitoring clinical improvement in patients receiving enzyme replacement therapy.
UNLABELLED: Fabry disease is a rare lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A. The resultant storage of undegraded glycolipids leads to the progressive development of potentially life-threatening manifestations affecting multiple organ systems in the body. This paper describes the development of the Mainz Severity Score Index (MSSI), a scoring system for patients with Fabry disease. CONCLUSION: The MSSI score has been proven to be representative in patients with 'classic' Fabry disease and may be useful for monitoring clinical improvement in patients receiving enzyme replacement therapy.
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