Type II Glycogen Storage Disease (Pompe Disease) Follow-up

Updated: Apr 24, 2017
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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Follow-up

Further Inpatient Care

Patients may require support by mechanical ventilation.

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Deterrence/Prevention

Phupong and Shotelersuk describe prenatal electron microscopy of skin fibroblasts to exclude Pompe disease in the fetus. [14]

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Complications

In the infantile form, cardiomegaly and congestive heart failure lead to death.

In the infantile form of glycogen storage disease (GSD), cardiomegaly and congestive heart failure lead to death.

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Prognosis

The adult form is not necessarily fatal, but complications such as aneurysmal rupture or respiratory failure may cause significant morbidity or mortality.

Although the infantile form typically is fatal, newer research offers promise. [15, 16] Sun and colleagues report treatment with a muscle-targeting adeno-associated virus vector in knockout mice resulted in persistent correction of muscle glycogen content. Mah and colleagues report sustained levels of correction of both skeletal and cardiac muscle glycogen with recombinant adeno-associated virus vectors in a mouse model. [17]

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