Pompe disease, a rare condition in two patients, case reports

Abstract

Pompe disease, or type II glycogen storage disease, is a lysosomal storage disorder in which a deficiency in alpha-glucosidase results in the accumulation of glycogen, which eventually causes weakness to progressively increase and heart enlargement.  Infantile-onset and late-onset forms of Pompe illness are distinguished. The heart is the organ most impacted by glycogen buildup in infantile-onset Pompe illness. A late-onset form, however, frequently presents as a weakening of the skeletal muscles that worsens over time. The key factor used to make the diagnosis of Pompe illness is enzymology, which shows a lack of lysosomal acid alpha-glucosidase (GAA) activity, although molecular genetic testing for GAA mutations can also be used to confirm the diagnosis. Recombinant human a glucosidase alfa and a large multidisciplinary team are required for the treatment of patients with Pompe disease (rhGAA, MyozymeR). Two cases of Pompe disease are presented in this case-report. A 13-year-old female patient who is still alive and receiving enzyme replacement therapy, and a 5-month-old newborn who died from cardiomyopathy.