TY - CHAP M1 - Book, Section TI - Glycogen Storage Disease Type IV (GSD IV) A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Inherited metabolic disorder characterized by hepatosplenomegaly and failure to thrive during the first year of life, followed by progressive liver cirrhosis with portal hypertension and death by 5 years of age. It is caused by an inborn error of metabolism resulting in a mutation in the GBE1 gene that causes a defect in the glycogen branching enzyme leading to accumulation of abnormal glycogen molecules particularly in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164071107 ER -