Fabry disease--a metabolic disorder with a challenge for endocrinologists?

U Feldt-Rasmussen, A K Rasmussen, H Mersebach, K M Rosenberg, L Hasholt, S A Sorensen

3 Citationer (Scopus)

Abstract

OBJECTIVE: To revisit Fabry disease, a rare X-linked metabolic glycosphingolipid storage disease caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-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 alpha-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.

OriginalsprogEngelsk
TidsskriftHormone Research
Vol/bind58
Udgave nummer6
Sider (fra-til)259-65
Antal sider7
ISSN0301-0163
DOI
StatusUdgivet - 2002
Udgivet eksterntJa

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