Method for treating Fabry disease in a patient having a G9331A mutation in the GLA gene

摘要

Provided are methods for treating patients diagnosed with Fabry disease and methods for enhancing α-galactosidase A in patients diagnosed with or suspected of having Fabry disease. A particular method involves administering to a patient a therapeutically effective dose of a pharmacological chaperone of α-galactosidase A, the patient having a splice site mutation in intron 4 of the nucleic acid sequence encoding α-galactosidase A. ing. Also described are the use of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease. [Selection figure] None