| 摘要 |
PROBLEM TO BE SOLVED: To provide methods for determining whether or not a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone.SOLUTION: The present invention provides methods for determining whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone (e.g., 1-deoxygalactonojirimycin, 1-deoxynojirimycin, or isofagomine). The present invention also provides an in vitro method for determining enzyme (e.g., α-galactosidase A, α-glucosidase or glucocerebrosidase) responsiveness to the pharmacological chaperone in a cell line expressing a mutant form of the enzyme. The invention also provides a method for: diagnosing a lysosomal storage disorder (e.g., Fabry disease, Pompe disease or Gaucher disease) in patients suspected of having a lysosomal storage disorder; and implementing the proper treatment based on the diagnosis (e.g., choosing a particular therapeutic agent to administer to the patient). |
