Type VI Glycogen Storage Disease Treatment & Management
- Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD more...
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. 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.
- A study by Asami and colleagues suggests that clonidine might be a treatment modality for Hers disease.
A case study by Ji et al suggested that GSD with hepatomegaly and hepatic adenoma can be successfully treated with reduced-size liver transplantation. 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.
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.
High-carbohydrate diet is effective in preventing hypoglycemia.
Most patients require little specific dietary intervention.
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