Title
Fabry disease in a patient with Turner syndromeFabry disease in a patient with Turner syndrome
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
Translational Neurosciences (TNW)
VIB DMG - Neurodegenerative Brain Diseases Group
Neurochemistry and behaviour
UZA
Publication type
article
Publication
Lancaster,
Subject
Human medicine
Source (journal)
Journal of inherited metabolic disease. - Lancaster
Volume/pages
32(2009):S:1, p. 45-48
ISSN
0141-8955
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
We report a unique case with co-occurrence of Turner syndrome and Fabry disease (OMIM #301500). The latter is a rare X-linked lysosomal storage disease that is characterized by partial or complete deficiency of α-galactosidase A (GLA; EC 3.2.1.22) following mutations in the gene (GLA) localized at Xq22.1. Accumulation of metabolic intermediates can occur in many tissues and leads to severe morbidity, especially due to renal failure, cardiac involvement and stroke. It is well established that hemizygous male mutation carriers with Fabry disease are generally more severely affected than heterozygous female mutation carriers, but disabling clinical features and disease progression often occur in female Fabry patients as well. The majority of this patients cells are of the 45,X type, making her a hemizygous GLA mutation carrier displaying a very severe Fabry disease phenotype.
E-info
https://repository.uantwerpen.be/docman/iruaauth/8c3b24/2444031.pdf
Handle