Rare Disease Report

Gastrointestinal Problems in Pompe Disease

APRIL 20, 2017
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.

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