enzyme activity test

What a Typical Pompe Clinic Day Looks Like

It was nerve-wracking for my son, Cayden, to be the first child in Pennsylvania diagnosed with infantile-onset Pompe disease via newborn screening. It was four years ago, but I still remember it like it was yesterday. Back then, Cayden’s visits felt very unorganized. However, our team of doctors has…

How Can an Enzyme Activity Test Help Diagnose Pompe Disease?

One test that doctors use to diagnose Pompe disease, a rare genetic disease caused by mutations in the GAA gene, is an enzyme activity test. GAA provides cells with the instructions necessary to make an enzyme that plays a role in breaking down a complex sugar molecule called…