{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T08:44:30Z","timestamp":1768985070639,"version":"3.49.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"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":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Fabry disease (McKusick 301500) is an X\u2010linked lysosomal storage disorder secondary to deficient \u03b1\u2010galactosidase A activity which leads to the widespread accumulation of globotriaosylceramide (Gb<jats:sub>3<\/jats:sub>) and related glycosphingolipids, especially in vascular smooth\u2010muscle and endothelial cells. We have recently shown that the myocardial perfusion reserve of Fabry patients is significantly decreased. Thus, in the present study we investigated, whether it can be improved with enzyme replacement therapy (ERT). Ten patients (7 male, 3 female; mean age 34, range 19\u201349 years) with confirmed Fabry disease were approved for this uncontrolled, open\u2010label study. Myocardial perfusion was measured at rest and during dipyridamole\u2010induced hyperaemia by positron emission tomography and radiowater. Myocardial perfusion reserve was calculated as the ratio between maximal and resting perfusion. Perfusion measurements were performed before and after 6 and 12 months of ERT by recombinant human \u03b1\u2010galactosidase A (Fabrazyme, Genzyme). Plasma Gb<jats:sub>3<\/jats:sub> concentration decreased significantly and the patients reported that they felt better and suffered less pain after the ERT. However, neither resting or dipyridamole\u2010stimulated myocardial perfusion nor myocardial perfusion reserve changed during the ERT. Pretreatment relative wall thickness correlated negatively with posttreatment changes in flow reserve (<jats:italic>r<\/jats:italic> = \u22120.76, <jats:italic>p<\/jats:italic> = 0.05) and positively with posttreatment changes in minimal coronary resistance (<jats:italic>r<\/jats:italic> = 0.80, <jats:italic>p<\/jats:italic> = 0.03). This study shows that 12 months of ERT does not improve myocardial perfusion reserve, although the plasma Gb<jats:sub>3<\/jats:sub> concentration decreases. However, individual variation in the response to therapy was large and the results suggest that the success of the therapy may depend on the degree of cardiac hypertrophy.<\/jats:p>","DOI":"10.1007\/s10545-006-0221-3","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T21:48:10Z","timestamp":1144360090000},"page":"112-118","source":"Crossref","is-referenced-by-count":59,"title":["The effect of 12\u2010month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease"],"prefix":"10.1002","volume":"29","author":[{"given":"R. J.","family":"Kalliokoski","sequence":"first","affiliation":[{"name":"Turku PET Centre University of Turku PO Box 52 Turku FIN\u201020521 Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Kantola","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Turku Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. 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