Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

Abstract excerpt

Anderson-Fabry disease (E C 3.2.1.22, MIM 301500) is an X linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA).1,2 The onset of the disease and the severity of clinical manifestations depend principally on residual GLA enzymatic activity.1 Fabry disease can be classified into two clinical phenotypes: the classical form and the cardiac variant.1,3 The classical form is...