Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease

Clinical Chemistry
Maria FullerP J Meikle

Abstract

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from a deficiency of the lysosomal exoglycohydrolase, alpha-galactosidase. Enzyme replacement therapy is currently available for Fabry disease, but early diagnosis before the onset of irreversible pathology will be mandatory for successful treatment. Presymptomatic detection would be possible through the use of a newborn-screening program. We report on the use of sensitive assays for the measurement of alpha-galactosidase protein and activity and for the protein saposin C, which are diagnostic markers for Fabry disease. Two sensitive immunoassays for the measurement of alpha-galactosidase activity and protein were used to determine the concentrations of alpha-galactosidase in dried filter-paper blood spots and plasma samples from control patients and patients with a lysosomal storage disorder (LSD). Fabry hemizygous individuals were clearly identified from control populations by decreases in both alpha-galactosidase activity and protein. Fabry heterozygotes generally fell between the hemizygotes and controls. Including the measurement of saposin C enabled differentiation between Fabry heterozygotes and controls. In blood spots, all Fabry individ...Continue Reading

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