How do you approach the diagnostic workup for patients with suspected Fabry's disease?
1 Answers
Mednet Member
Neurology · University of Minnesota
Quite simple- if you suspect the disease in a male, you can measure alpha galactosidase enzyme activity in blood; if normal the diagnosis is unlikely, if abnormal you can confirm with GLA gene sequencing. If you suspect the disease in a female (manifesting carrier), you should directly sequence GLA ...