Assignment of the human glycogen debrancher gene to chromosome 1p21
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Developmental and Inherited Liver Disease
2023, MacSween's Pathology of the Liver, Eighth EditionA retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
2021, Molecular Genetics and Metabolism ReportsCitation Excerpt :GSD III (OMIM 232400) is caused by a deficiency of the glycogen debrancher enzyme (GDE; OMIM 610860), an enzyme with two independent catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25) [1]. Together with glycogen phosphorylase, GDE degrades glycogen to release glucose and glucose-1-phosphate for use as a source of energy [1]. A deficiency of GDE leads to an accumulation of abnormally structured glycogen, called limit dextrin, which is characterized by short outer chains.
Abnormalities of Carbohydrate Metabolism and the Liver
2020, Pediatric Gastrointestinal and Liver Disease, Sixth EditionInborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis
2018, Pediatric Clinics of North AmericaCitation Excerpt :Type IIIa accounts for 85% of people with GSD III, and involves the liver, heart, and muscles; type IIIb only affects the liver.44 Both GSD IIIa and IIIb are caused by mutations in the AGL gene.45 GSD III has a wide clinical spectrum.
Developmental and Inherited Liver Disease
2018, MacSween's Pathology of the Liver