Type V Glycogen Storage Disease Treatment & Management

Updated: May 02, 2022
  • Author: Isaac Omolade Ogunmola, MBBS; Chief Editor: George T Griffing, MD  more...
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Treatment

Medical Care

In general, no specific treatment exists for GSDs.

  • In some cases, diet therapy is helpful. Meticulous adherence to a dietary regimen may reduce liver size, prevent hypoglycemia, help with reduction in symptoms, and allow for growth and development. A high-protein diet may increase exercise tolerance in some cases, although this practice is controversial. [14]

  • Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector. [15] 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. [16]

  • Interest in glucagon treatment for McArdle disease has developed, but a study by Day and Mastaglia showed no benefit over placebo. [17]

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Diet and Activity

Diet

A high-protein diet may increase exercise tolerance in some cases, although this practice is controversial.

Activity

Avoidance of intense physical activity usually ameliorates symptoms.

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