The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease

摘要

Fabry disease is a rate lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme a-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.