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Vol. 58, No. 6, 2002
Issue release date: 2002
Horm Res 2002;58:259–265

Fabry Disease – A Metabolic Disorder with a Challenge for Endocrinologists?

Feldt-Rasmussen U. · Rasmussen Å.K. · Mersebach H. · Rosenberg K.M. · Hasholt L. · Sorensen S.A.
aDepartment of Medical Endocrinology, Rigshospitalet and bDepartment of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Denmark

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Objective: To revisit Fabry disease, a rare X-linked metabolic glycosphingolipid storage disease caused by a deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). Method: Summary of the existing knowledge of Fabry disease including the clinical feature of Fabry disease and the recent breakthrough in the treatment of Fabry patients with the development of recombinant human α-gal A. Conclusion: The diffuse organ manifestations of Fabry disease resemble medical endocrinological diseases, and medical endocrinology might be an appropriate speciality to manage the treatment in collaboration with other specialists and clinical geneticists.

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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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