Glycogen Storage Disease Types I, II, III and V – A Mini Review
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. More than 12 types of GSD are known up-to-date and they are classified based on the related enzyme deficiency involved and the affected tissue. In general, GSD affect primarily the liver, the muscle or both but may also affect the kidney and intestine in which the accumulation of glycogen on liver and kidneys results in hepatomegaly and renomegaly. Each type of GSD has a different impact on the metabolism, but some symptoms seem to remain constant between the types; although each one is treated as a unique case. The most common approach to managing GSD is through specific diet. The simplest and most effective long-term treatment for GSD I (Von Gierke’s disease) is by the use of uncooked cornstarch which is able to decrease the metabolic abnormalities of the disease. Recently, Treatment of GSDIa with AAV-GPE-mediated gene therapy in mice has shown promising results in decreasing the metabolic abnormalities and the risk of chronic complications, suggesting that G6Pase-α gene transfer may be a potential therapeutic approach to the management of human GSDIa. The only prominent viable treatment for GSD II (Pompe disease) is through enzyme replacement by gene therapy. Lately, the efficacy of enzyme replacement therapy has improved clinical outcomes but varies between patients and therefore further research is needed. The main treatment of GSD type III (Cori’s disease) is based on diet, through high-protein but limited carbohydrate intake, which can alleviate and even prevent most symptoms. For GSD type V (McArdle disease) there is no cure or treatment, but symptoms can be kept under control. This mini review paper summarizes the value of dietary therapies in improving the quality of life and survival through minimizing metabolic abnormalities and chronic complications.
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