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Pramod Singh Khatri*, Anupriya Singh, Monika Kumari, Pratik Gautam, Sakshi Shukla


Glycogen storage disease type II (GSD II), or Pompe disease, is classified by period of onset, organ involvement, severity, and rate of progression. Infantile onset Pompe disease might be deceptive in utero butis frequently present in the initial two months of gestation with hypotonia, muscle weakness, cardiomegaly and hypertrophic cardiomyopathy, feeding challenges, inability to thrive, respiratory distress, and dumbness. Without treatment by ERT, infantile onset Pompe disease regularly leads to death in the first year of life from progressive left ventricular outflow obstruction. Infantile onset Pompe diseaseusually have motor delays and muscle weakness, commonly dying from ventilatory failure in their early childhood. Cardiomegaly can be seen; however, heart disease does not lead to morbidity. However Late-onset Pompe disease is described by proximal muscle weakness and respiratory insufficiency; clinically significant cardiovascular involvement is not found in the late-onset form.

Keywords: FDA, ERT, GAA, GSD II, PGD.

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