Glycogen storage diseases of all types

Excerpt

Defects of glycogen metabolism are among the earliest recognized inborn errors of metabolism, first described in 1928 and 1929. When Schönheimer demonstrated in 1929 that an enzyme that degrades glycogen was missing in the liver of a patient suffering from what is now known as glycogenosis type 1 or von Gierke disease, Sir Archibald Garrod’s concept that inborn errors of metabolism result from genetically determined enzyme deficiencies was proven for the first time. Since then, a multitude of disturbances of glycogen metabolism was defined, and virtually defects of all proteins involved in synthesis, transport, degradation of glycogen and its regulation have been discovered. The delineation of glycogenin-1 deficiency in 2010 marked the 20th monogenic defect in this field and was designated as glycogen storage disease type XV. …