{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T07:19:37Z","timestamp":1778311177342,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Anderson\u2010Fabry disease (referred to as Fabry disease) is an X\u2010linked disorder characterized by a deficiency of the lysosomal enzyme <jats:italic>\u03b1<\/jats:italic>\u2010galactosidase A and the subsequent accumulation in various tissues of globotriaosylceramide (Gb<jats:sub>3<\/jats:sub>), the main substrate of the defective enzyme. Enzyme replacement therapy (ERT) offers a specific treatment for patients with Fabry disease, though monitoring of treatment is hampered by a lack of surrogate markers of response. In this study, the efficacy of long\u2010term ERT in six Fabry hemizygotes and two symptomatic heterozygotes has been evaluated. Patients were administered recombinant <jats:italic>\u03b1<\/jats:italic>\u2010galactosidase A every 2 weeks for up to a year. The efficacy of ERT was assessed by monitoring symptomatology and renal function. Urinary glycolipid concentration was estimated by a novel tandem mass spectrometric method. Urine glycolipid (Gb<jats:sub>3<\/jats:sub>) was elevated at baseline and fell impressively on ERT where patients were hemizygotes and in the absence of renal transplantation. In heterozygotes and in a recipient of a renal allograft, elevations and changes in urine glycolipids were less pronounced. In one patient, after several months of ERT, there was a transient increase in Gb<jats:sub>3<\/jats:sub> concentrations to baseline (pre\u2010ERT) levels, associated with the presence of antibodies to the recombinant <jats:italic>\u03b1<\/jats:italic>\u2010galactosidase A. The marked decline in urine Gb<jats:sub>3<\/jats:sub> on ERT, and its subsequent increase in association with an inhibitory antibody response, suggest that this analyte deserves further investigation as a potential marker of disease severity and response to treatment.<\/jats:p>","DOI":"10.1007\/s10545-005-4415-x","type":"journal-article","created":{"date-parts":[[2005,2,8]],"date-time":"2005-02-08T17:14:47Z","timestamp":1107882887000},"page":"21-33","source":"Crossref","is-referenced-by-count":77,"title":["Monitoring enzyme replacement therapy in Fabry disease\u2014Role of urine globotriaosylceramide"],"prefix":"10.1002","volume":"28","author":[{"given":"P. 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