Article
Fabry disease in a patient with Turner syndrome.
Journal of inherited metabolic disease - 1 Dec 2009
Brouns R, Eyskens F, De Boeck K, Ceuterick-de Groote C, Van den Broeck M, Van Broeckhoven C, De Deyn P P
Abstract excerpt
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 alpha-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,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.