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Glycogen Storage Disease Type 1a (glucose-6-phosphatase deficiency, von Gierkes disease,) is a rare genetic metabolic disorder centered in the liver. In children afflicted with GSD1, a specific enzyme that breaks down certain carbohydrates, including glycogen (a stored form of sugar,) is either missing or not functioning properly. Because of the missing /impaired enzyme, the body cannot create glucose from glycogen and it is difficult to maintain normal blood sugar levels between meals without constant feedings. Glucose is the essential energy source for every cell in the body. Dangerous by-products such as lactate, uric acids and triglycerides in combination with low blood sugar leads to numerous complications in GSD1 including impaired breathing, seizures, coma and death if a very strict dietary regimen is not followed.
