Laboratory Diagnosis of Glycogen Diseases

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The chapter presents a discussion on laboratory diagnosis of glycogen diseases. The chapter mentions that the study of the inborn defects of the metabolism of glycogen has been a source of enrichment of the biochemical and clinical understanding. The specific deficiency of each type of glycogenosis represents a unique experiment of nature that could have been neither conceived by the intellect nor imitated in an animal experiment. Investigation not only reveals the causes of the clinical symptoms, but opens new aspects for understanding important, but hitherto unknown biochemical pathways. The chapter particularly deals with the laboratory diagnosis of the several glycogen diseases, and the biochemical and clinical description will therefore be restricted. A short survey of the pathways of glycogen synthesis and degradation, and their defects are also discussed. The chapter also highlights that that several reviews have summarized the most important of the recent developments in the biochemistry and pathophysiology of glycogen and glycogen diseases—the deficiency of acid α-glucosidase, of glycogen synthetase, of muscle and liver phosphorylase and of muscle phosphofructokinase, the complexity of the debranching process, the use of blood cells for enzymatic diagnosis, and the progress in analytical methods.