[Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].

Abstract excerpt

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal hydrolase, alpha-galactosidase. Patients with classic Fabry disease of early onset show diverse clinical manifestations caused by generalized vasculopathy. Recent clinical and enzymatic examinations have revealed another form of this disease; progressive cardiomyopathy of late onset...

Topics

• DNA
• Fabry Disease
• Heterozygote
• Humans
• Mutation
• Polymorphism, Restriction Fragment Length
• alpha-Galactosidase