Immunoquantification of -Galactosidase: Evaluation for the Diagnosis of Fabry Disease
نویسندگان
چکیده
Background: Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from a deficiency of the lysosomal exoglycohydrolase, -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 -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 -galactosidase activity and protein were used to determine the concentrations of -galactosidase in dried filter-paper blood spots and plasma samples from control patients and patients with lysosomal storage disorder (LSD). Results: Fabry hemizygous individuals were clearly identified from control populations by decreases in both -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 individuals could be distinguished from control blood spots as well as from 16 other LSD patients. Conclusions: The determination of -galactosidase activity or protein in dried filter-paper blood spots could be used for the diagnosis of Fabry patients. With further validation, these assays could be used for the identification of Fabry patients in newborn-screening programs and may also be suitable for screening high-risk populations. © 2004 American Association for Clinical Chemistry
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Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal) in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...
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BACKGROUND Data obtained from screened newborns and from persons at known risk for Fabry disease suggest that this condition is much more common in Germany than previously assumed. Its clinical manifestations are very diverse, and its differential diagnosis is correspondingly broad. Thus, there is often a delay before the diagnosis of Fabry disease is established. METHODS Selective literature...
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