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Rafael de Marchi

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Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing

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By Tatiéle Nalin, Fernanda Sperb-Ludwig, Rafael de Marchi, Franciele Cabral Pinheiro
| MDPI
1. Introduction Glycogen is the first energy source between meals and is especially abundant in the liver and muscles. In the liver, it serves as a glucose reserve for maintaining normoglycemia during fasting. Several enzymes act in the synthesis and degradation of glycogen, and a deficiency in any of these enzymes results in Glycogen Storage Diseases (GSDs), previously called glycogenosis, which causes abnormalities in the storage or use of glycogen [1,2].
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