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• W2187445176 abstract "ABRY’S disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of a -galactosidase A, a lysosomal exoglycosidase. 1,2 In males with the classic form of the disease, there is little if any a -galactosidase A activity. As a result, undegraded glycosphingolipids accumulate, particularly in the vascular endothelium. These deposits cause the characteristic angiokeratomas, acroparesthesias, hypohidrosis, and corneal opacities of Fabry’s disease. Death in early adulthood in affected persons may be due to vascular disease of the heart, kidney, or brain. These abnormalities are absent in males with the cardiac variant of the disease. Those with the cardiac variant typically present with a mild, late-onset disorder that is primarily limited to the heart, and there is no involvement of the vascular endothelium. 1-3 With advancing age, however, cardiac involvement progresses and leads to death. 4 All of the previously described patients with the cardiac variant of Fabry’s disease had mutations in the a -galactosidase A gene that encoded sufficient residual enzymatic activity to preclude the classic phenotype. 1-3,5,6 A recent clinical trial, reported elsewhere in this issue of the Journal, indicated that enzyme-replacement therapy may be safe and effective in patients with classic Fabry’s disease. 7 Enzyme infusions given every other week cleared the glycosphingolipid deposits in the vascular endothelium of the kidney, heart, and skin. In a finding of relevance to patients with the cardiac variant of the disease, in vitro studies indicated that residual a -galactosidase A activity can be increased by the addition of galactose to the medium of cultured fibro" @default.
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• W2187445176 date "2001-01-01" @default.
• W2187445176 modified "2023-09-27" @default.
• W2187445176 title "I MPROVEMENT IN C ARDIAC F UNCTION IN THE C ARDIAC V ARIANT OF F ABRY ' S D ISEASE WITH G ALACTOSE -I NFUSION T HERAPY" @default.
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