The glycogenoses are a group of heritable disorders characterized by an abnormality in glycogen metabolism. The first to be described and enzymatically defined, type I glycogen storage disease (GSD), was characterized by an absence or deficiency of glucose-6-phosphatase.1 Indeed, this was the first inborn error of metabolism in which the absent or deficient enzyme was demonstrated, 52 years after Sir Archibald Garrod's prediction in 1902 that inborn errors would be found to be due to an absence of a single enzyme.2
Although there are now known to be over 15 different enzyme deficiencies associated with GSDs, the glycogenoses can be clinically divided into those that affect primarily the liver and those that affect primarily the muscle. Type I GSD is the prototype of the group that affects the liver. The associated symptoms are hypoglycemia, hepatomegaly with protuberant abdomen, enlarged kidneys, cherubic facies, and short stature. The prominent clinical
Sidbury JB, Chen Y, Roe CR. The Role of Raw Starches in the Treatment of Type I Glycogenosis. Arch Intern Med. 1986;146(2):370–373. doi:10.1001/archinte.1986.00360140200029
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