Diffuse structural and metabolic brain changes in Fabry disease.

Objectives: To assess structural and metabolic brain changes in subjects affected by Fabry disease (FD) or carrying the disease mutation.

Background: FD is an X-linked metabolic disorder due to alpha-galactosidase A deficiency, which leads to storage of glycosphingolipids in many tissues and organs. Previous MR studies have shown structural and metabolic brain abnormalities in FD patients.

[Fabry disease in Italy: first epidemiologic and collaborative study].

The authors sought to define the prevalence of Fabry disease and to establish the incidence and its natural history in Italy. The aim of this study was to point out the first clinical signs and symptoms to perform an early diagnosis and hence to start a specific therapeutic treatment. Fabry disease is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme alpha-galactosidase A.