Glycogenoses

Pathogenesis and Pathophysiology. The glycogenoses or glycogen storage diseases are lysosomal disorders in which glycogen accumulates within a number of tissues; hypoglycemia usually accompanies the clinical signs. y These diseases are named for the specific enzyme deficiency that occurs in the glycogen metabolic pathway (i T§Me,3.0:.5 ), and their ordering follows the enzymatic steps involved in glycogen synthesis and catabolism. y y y y y y y [43] [44] [4si y

Epidemiology and Risk Factors. Current knowledge indicates that all the known genetic glycogenoses are inherited as autosomal recessive traits. This has been shown clearly in patients with Pompe's disease, in which the type 3 and 4 variants are possibly related to different alleles.

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