What specific, additional testing—enzyme activity levels and/or genetic mutational assessment—is required in patients who present with neurologic symptoms characteristic of Fabry Disease?

What specific, additional testing—enzyme activity levels and/or genetic mutational assessment—is required in patients who present with neurologic symptoms characteristic of Fabry Disease?

What specific, additional testing—enzyme activity levels and/or genetic mutational assessment—is required in patients who present with neurologic symptoms characteristic of Fabry Disease? 


Created by

CMEducation Resources IQ&A Fabry Disease Diagnostic Intelligence Zone

Presenter

Heather Lau, MD

Heather Lau, MD

Assistant Professor, Department of Neurology
Associate Director, Division of Neurogenetics
Director, Lysosomal Storage Disease Program
NYU Langone
New York, NY