http://www.raredr.com/conferences/pompe2017/gi-problems-in-pompe-disease
Gastrointestinal Problems in Pompe Disease

Paul McIntosh



Paul McIntosh is a patient with Pompe disease. He is also a medical student, and as shown in this clip, a medical researcher. During Paul's time as a medical student, he conducted a survey about gastrointestinal (GI) complaints that seems to be common in patients with Pompe disease. 
 
Based on the survey, Paul and others at Duke University are starting a more structured survey on GI problems that may exist in Pompe disease patients.
 
We talked to Paul at Duke University's late-onset Pompe disease patient meeting held April 9, 2017. 
 

About Pompe Disease

Pompe disease is a rare lysosomal disease that may present in childhood (early-onset) or in adulthood (late-onset). In both cases, the disease is due to a deficiency in the enzyme alpha-glucosidase (GAA). Symptoms vary greatly in this population but can be severe and ultimately deadly in the early-onset type.
Printer Printing...
$content$