The treatment of a genetic disorder requires in-depth understandingof a biochemical aberration, clinical expertise in treatingthe target disease, and customized approaches to caring forindividual patients. Recent advances in the treatment of Fabry'sdisease illustrate these points and show that enzyme-replacementtherapy can be safe and efficacious for certain rare inbornerrors of metabolism.
Fabry's disease, an X-linked lysosomal-storage disorder, isdue to a deficiency of -galactosidase A.1 In the glycosphingolipidcatabolic pathway, this enzyme removes the third sugar residue,a galactose, attached to ceramide. Without this enzyme, globotriaosylceramide(Figure 1) accumulates within the vascular epithelium, . . . [Full Text of this Article]
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-galactosidase A.1 In the glycosphingolipid catabolic pathway, this enzyme removes the third sugar residue, a galactose, attached to ceramide. Without this enzyme, globotriaosylceramide (Figure 1) accumulates within the vascular epithelium, 
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