Stephan Wenninger

Aug 28, 2024 | onlinelibrary.wiley.com | Metabolic Diseases |Mike Horton |Stephan Wenninger |Benedikt Schoser

INTRODUCTION Pompe disease (glycogen storage disease type II or acid maltase deficiency, Online Mendelian Inheritance in Man ID: 232300) is a rare inherited metabolic disorder in which deficiency of acid α-glucosidase leads to lysosomal glycogen accumulation [1]. Late onset or nonclassic Pompe disease can present at any age and is characterized by slowly progressive skeletal and respiratory muscle weakness, often leading to wheelchair and/or ventilator dependency [2, 3].