Prevalence of Pompe: More Common Than You Know

Pompe disease, also known as acid maltase deficiency, is a rare, autosomal-recessive disorder in which a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) leads to impaired metabolism and breakdown of glycogen. Whereas infantile Pompe disease is typically multisystemic, the adult-onset disease form typically is dominated by skeletal muscle weakness affecting proximal limb-girdle musculature and respiration muscles. The rarity of the disease means that a high index of suspicion is needed to make the diagnosis.

To generate data that might aid clinicians in diagnosing Pompe disease, investigators in Germany and the United Kingdom screened a cohort of 3076 adult patients (median age, 48; range, 18–89 years) presenting with an isola…