TY - CHAP M1 - Book, Section TI - Glycogen Storage Disease Type III (GSD III) A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Inherited metabolic disease resulting in accumulation of abnormal glycogen in different tissues of the body. Glycogen storage disease Type III (Cori Disease) is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes. There are four different types based on the clinical presentation. It presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly, muscular disease, hypotonia, and often severe cardiomyopathy usually occurring later. The hepatomegaly and splenomegaly regress at adolescence. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164071080 ER -