Type IV Glycogen Storage Disease Treatment & Management

Updated: Apr 25, 2014
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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Treatment

Medical Care

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  • In general, no specific treatment exists to cure glycogen storage diseases (GSDs).
  • In some cases, diet therapy is helpful. Meticulous adherence to a dietary regimen may reduce liver size, prevent hypoglycemia, reduce symptoms, and allow for growth and development.
  • Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector. [10] These findings suggest that corrective gene therapy for GSDs may be possible in humans.
  • An encouraging study by Bijvoet and colleagues provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies. [11]
  • Supportive care is needed for individual manifestations, including liver failure, heart failure, and neurologic dysfunction.
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Surgical Care

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  • Liver transplantation may be indicated for patients with classic and progressive hepatic disease.
  • Ewert and colleagues report successful heart transplantation in a patient with Andersen disease and cardiomyopathy. [12]
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Consultations

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  • Consult a hepatologist regarding liver dysfunction and management.
  • Consult a cardiologist for heart dysfunction and management.
  • Consult a neurologist versed in the diagnosis and management of neuromuscular disorders.
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Diet

Growing evidence indicates that a high-protein diet may provide increased muscle function in patients with weakness or exercise intolerance. Evidence also exists that a high-protein diet may slow or arrest disease progression.

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