Approach Considerations
The following are recommended:
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Frequent, small meals
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Uncooked cornstarch, used at a dose of 1 to 2 g/kg per dose, between meals and at bedtime to avoid hypoglycemia
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Continuous carbohydrate supply overnight [15]
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High-protein diet (as a possible source of glucose)
Medical Care
In general, no specific treatment exists for 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. [16] 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 GSD type II, which may lead to therapies for other enzyme deficiencies. [17]
A study by Asami and colleagues suggests that clonidine might be a treatment modality for Hers disease. [18]
Surgical Care
A case study by Ji et al suggested that GSD with hepatomegaly and hepatic adenoma can be successfully treated with reduced-size liver transplantation. [19] The authors retrospectively analyzed clinical data from a young female patient with GSD type I, whose clinical manifestations included hepatic adenoma, hepatomegaly, delayed puberty, growth retardation, sexual immaturity, hypoglycemia, and lactic acidosis. Ji and colleagues reported a satisfactory postsurgical outcome for the patient, including, over a 16-month period, height and weight increases of 12 cm and 5 kg, respectively. The patient was able to start enjoying a "normal life" and, according to Ji and colleagues, was continuing to do so 4 years postsurgery.
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 progression of the disease.
A high-carbohydrate diet is effective in preventing hypoglycemia.
Most patients require little specific dietary intervention.
Long-Term Monitoring
The following are recommended for long-term monitoring:
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Periodic fasting glucose measurement
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Liver function studies
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Annual liver ultrasound scan
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Metabolic pathways of carbohydrates.
