Perioperative management of children with glycogen storage disease type II-Pompe disease.
Bosman L, Hoeks SE, González Candel A, van den Hout HJM, van der Ploeg AT, Staals LM
Paediatric anaesthesia, 2018 05
Abstract
Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and cardiomyopathy. As life expectancy has much improved since the introduction of enzyme replacement therapy an increasing number of patients are referred for surgical procedures. Due to the potential cardiopulmonary complications, these patients form a high-risk group for the anesthesiologist.