The Molecular Background of Glycogen Metabolism Disorders

摘要: The molecular pathology of classical glycogen storage disorders, synthase deficiency and Fanconi-Bickel syndrome is reviewed. isolation the respective cDNAs, chromosomal localization genes elucidation genomic organization enabled mutation analysis in most disorders. findings have shed light on multi-protein structure glucose-6-phosphatase system, phosphorylase kinase enzymatic complex background differential tissue expression debranching enzyme deficiency. immediate practical benefit these studies our extending ability to predict outcome clinical variants offer genetic counseling families. tertiary proteins their structure-function relationship poses major challenges for future.