Journal
GENETICS IN MEDICINE
Volume 18, Issue 12, Pages 1181-1185Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2016.55
Keywords
benign variant; GLA gene; lysosomal storage disease; risk factor
Categories
Funding
- Amicus Therapeutics
- Protalix Biotherapeutics
- Shire
Ask authors/readers for more resources
Fabry disease is caused by mutations in the GLA gene that lower alpha-galactosidase A activity to less than 25-30% of the mean normal level. Several GLA variants have been identified that are associated with relatively elevated residual alpha-galactosidase A. The challenge is to determine which GLA variants can cause clinical manifestations related to Fabry disease. Here, we review the various types of GLA variants and recommend that pathogenicity be considered only when associated with elevated globotriaosylceramide in disease-relevant organs and tissues as analyzed by mass spectrometry. This criterion is necessary to ensure that very costly and specific therapy is provided only when appropriate.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available