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Previous Volume 345:25-32 July 5, 2001 Number 1 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF Editorial by Gahl, W. A. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of -galactosidase A, a lysosomal exoglycosidase.^1,2 In males with the classic form of the disease, there is little if any -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 . . . [Full Text of this Article]

Case Report

Methods

Monitoring Procedures

Morphologic Studies

Biochemical and Molecular Studies

Results

Diagnostic Studies

Effect of Galactose Infusions

Discussion

Source Information

From the Departments of Cardiology (A.F., C.C., M.P.), Pediatrics (R.R.), and Radiology (L.N.), Università Cattolica del Sacro Cuore, Rome; the Department of Medicina Sperimentale e Patologia, Università La Sapienza, Rome (M.A.R.); and the Department of Human Genetics, Mount Sinai School of Medicine, New York (C.M.E., R.J.D.).

Address reprint requests to Dr. Desnick at the Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, 5th Ave. at 100th St., New York, NY 10029, or at rjd.fabry@mssm.edu.

References

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