期刊
GENETICS IN MEDICINE
卷 18, 期 12, 页码 1181-1185出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2016.55
关键词
benign variant; GLA gene; lysosomal storage disease; risk factor
资金
- Amicus Therapeutics
- Protalix Biotherapeutics
- Shire
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.
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