Medical and Surgical Care
Medical care
In general, no specific treatment exists for glycogen storage diseases (GSDs). [13]
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. Early diet therapy may help prevent hepatic disease, including hepatocellular carcinoma.
There is ongoing research into emerging gene therapy treatments. Zingone et al demonstrated the abolition of the murine clinical manifestations of Von Gierke disease with a recombinant adenoviral vector. [14] These findings suggest that corrective gene therapy for GSDs may be possible in humans. An encouraging study by Bijvoet et al provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies. [15]
Surgical care
Liver transplantation may be indicated for patients with hepatic malignancy. It is not clear whether transplantation prevents further complications, although a study by Matern et al demonstrated post-transplantation correction of metabolic abnormalities. [16]
Shimizu et al reviewed the long-term outcomes of 11 children with GSD type Ib who had undergone living donor liver transplantation. They found that blood glucose levels had stabilized and hospitalizations for infectious complications had decreased in all of the patients. However, platelet function had not improved. [17]
Consultations
Gastroenterology consultation may be necessary to evaluate the presence or absence of inflammatory bowel disease.
Diet
A high-protein diet may provide increased muscle function in cases of weakness or exercise intolerance. A high-protein diet also may slow or arrest disease progression. In addition, patients must receive adequate glucose. Adequate administration of starch may avoid hypoglycemia.
In a 2-year study of 7 patients with GSD type Ib, Melis et al examined whether the administration of vitamin E could improve or prevent the clinical manifestations of neutropenia and neutrophil dysfunction. [18] Vitamin E supplementation was provided to patients only during the second year of the study, and neutrophil counts from the first and second years were compared. The investigators found that during the second year, mean neutrophil counts were significantly greater than they were during the first. Reductions in the frequency and severity of infections, mouth ulcers, and perianal lesions also occurred during the second year. However, no changes in neutrophil function were found in association with vitamin E supplementation. Another study by Melis et al reported that during vitamin E supplementation, frequency and severity of infections in a caseload of 18 GSD1b patients were lower and mean value of neutrophil count were higher. [19]
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Metabolic pathways of carbohydrates.
