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

Feldt-Rasmussen U.a · Rasmussen Å.K.a · Mersebach H.a · Rosenberg K.M.b · Hasholt L.b · Sorensen S.A.b
aDepartment of Medical Endocrinology, Rigshospitalet and bDepartment of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Denmark Horm Res 2002;58:259–265 (DOI:10.1159/000066443)


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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