Background: Fabry disease is a rare X-linked disorder characterized by complete deficiency or reduced activity of the lysosomal enzyme -galactosidase A. Patients with Fabry disease present with a heterogeneous spectrum of symptoms due to the progressive accumulation of glycosphingolipids in bodily tissues. Clinical onset usually occurs during late childhood or adolescence, but the correct diagnosis is rarely reached before the third decade of life. Enzyme replacement therapy is available for the treatment of patients with confirmed -galactosidase A deficiency. Aim: To report on a rapid testing procedure for measuring -galactosidase A activity in dried blood spots. Methods and results: Dried blood spots represent a convenient and cost-effective way to collect blood samples. We analysed five different populations: 116 healthy adults, 147 newborns, three hemizygous males and four heterozygous females with Fabry disease, and ten individuals affected by other lysosomal storage diseases (LSDs). We obtained the following enzyme activity ranges: healthy adults, 6.0–21.4 pmoles/punch/h; newborns, 5.0–52.3 pmoles/ punch/h; hemizygous males, 0.3–3.2 pmoles/punch/h; heterozygous females, 5.4–10.3 pmoles/punch/h; individuals affected by other LSDs, 5.9–19.4 pmoles/punch/h. The dried blood spot test was able to differentiate male patients with Fabry disease, but not females, from healthy volunteers. Conclusion: Given that the prevalence of Fabry disease appears to be underestimated, especially in patients with cardiac and renal dysfunction, we propose this microassay as a non-invasive, cost-effective and quick method for screening at-risk adult populations.
A rapid testing procedure for Fabry disease: alpha-galadosidase A assay in dried blood spots
GASPAROTTO, NICOLETTA;TOMANIN, ROSELLA;FRIGO, ANNA CHIARA;SCARPA, MAURIZIO
2008
Abstract
Background: Fabry disease is a rare X-linked disorder characterized by complete deficiency or reduced activity of the lysosomal enzyme -galactosidase A. Patients with Fabry disease present with a heterogeneous spectrum of symptoms due to the progressive accumulation of glycosphingolipids in bodily tissues. Clinical onset usually occurs during late childhood or adolescence, but the correct diagnosis is rarely reached before the third decade of life. Enzyme replacement therapy is available for the treatment of patients with confirmed -galactosidase A deficiency. Aim: To report on a rapid testing procedure for measuring -galactosidase A activity in dried blood spots. Methods and results: Dried blood spots represent a convenient and cost-effective way to collect blood samples. We analysed five different populations: 116 healthy adults, 147 newborns, three hemizygous males and four heterozygous females with Fabry disease, and ten individuals affected by other lysosomal storage diseases (LSDs). We obtained the following enzyme activity ranges: healthy adults, 6.0–21.4 pmoles/punch/h; newborns, 5.0–52.3 pmoles/ punch/h; hemizygous males, 0.3–3.2 pmoles/punch/h; heterozygous females, 5.4–10.3 pmoles/punch/h; individuals affected by other LSDs, 5.9–19.4 pmoles/punch/h. The dried blood spot test was able to differentiate male patients with Fabry disease, but not females, from healthy volunteers. Conclusion: Given that the prevalence of Fabry disease appears to be underestimated, especially in patients with cardiac and renal dysfunction, we propose this microassay as a non-invasive, cost-effective and quick method for screening at-risk adult populations.Pubblicazioni consigliate
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