Type IV Glycogen Storage Disease Treatment & Management

Updated: Feb 21, 2019
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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Medical Care

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.

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. [17]

Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector. [18] 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. [19]

Supportive care is needed for individual manifestations, including liver failure, heart failure, and neurologic dysfunction.

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.

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