Early diagnosis of Fabry disease is essential and that since symptoms depend on the type of disease and sex and age of the patient, a high-risk screening system should account for the age of the ...

Fabry's disease is an X-linked lysosomal storage disorder caused by a defect in the gene that encodes the lysosomal enzyme α-galactosidase A. Symptoms arise because of accumulation of ...

Fabry disease is a rare, inherited disease caused by the deficiency of a certain enzyme that breaks down fats in the body. Typically, a lysosomal enzyme known as alpha-galactosidase A (a-GAL A) is ...