Open AccessTwo cases of Fabry disease identified in brothers
Author(s) -
Ji Eun Cho,
Yong Hee Hong,
Yang Gyun Lee,
Han Wook Yoo,
Dong Hwan Lee
Publication year - 2010
Publication title -
korean journal of pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2092-7258
pISSN - 1738-1061
DOI - 10.3345/kjp.2010.53.2.235
Subject(s) - medicine , fabry disease , mutation , disease , brother , glycosphingolipid , gene , alpha galactosidase , fabry's disease , enzyme replacement therapy , pediatrics , genetics , gastroenterology , biology , sociology , anthropology
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ?#7015;alactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation
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