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


METHODS
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.


CONCLUSIONS
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.
Feldt-Rasmussen
U
U
Department of Medical Endocrinology, Rigshospitalet, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Denmark. ufeldt@rh.dk
Rasmussen
A K
AK
Mersebach
H
H
Rosenberg
K M
KM
Hasholt
L
L
Sorensen
S A
SA
D017668:Age of Onset; D004702:Endocrine Glands / Q000503:physiopathology*; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D005838:Genotype; D006801:Humans; D010641:Phenotype; D016896:Treatment Outcome