Journal article

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

M Fuller, M Lovejoy, DA Brooks, ML Harkin, JJ Hopwood, PJ Meikle

Clinical Chemistry | OXFORD UNIV PRESS INC | Published : 2004

Abstract

BACKGROUND: 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. METHODS: Two sensitive immunoassays for the measurement of alpha-galactosidase..

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