Type Ia Glycogen Storage Disease Treatment & Management

Updated: Mar 07, 2017
  • 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, allow for reduction in 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. [11] These findings suggest that corrective gene therapy of GSDs may be possible for 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. [12]

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Surgical Care

Liver transplantation may be indicated for patients with hepatic malignancy. Whether transplantation prevents further complications remains unclear, although a study by Matern and colleagues demonstrated correction of metabolic abnormalities after transplantation. [13]

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Consultations

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  • Due to the progressive kidney dysfunction, referral to a nephrologist may be appropriate.

  • Consultation with a hepatologist may be necessary for management of liver dysfunction.

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Diet

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

  • Prevention of hypoglycemia in affected infants can be challenging. Nasogastric drip-feeding has allowed continuous feeding during the night. Uncooked starch may be used in older children.

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