Advances in newborn screening for Pompe disease and resulting clinical outcomes

Abstract

Introduction:Pompe disease is a lysosomal storage disorder caused by a deficiency in acid α-glucosidase, which is responsible for the degradation of lysosomal glycogen. Enzyme replacement therapy (ERT) is now the standard treatment for Pompe disease and as such newborn screening to diagnose patients early is advantageous for the best therapy outcomes.

Areas covered:This review is based on personal experience and the currently available literature; it provides an overview of the advances in newborn screening for Pompe disease and of the efficacy and limitations of ERT for newborns after identification by screening.

Expert opinion: Newborn screening coupled immediately with ERT provides the best outcome for Pompe disease, but residual muscle weakness and other morbidity promotes development of second-generation therapies for improvements in both the muscular and neurologic aspects. Drawbacks of newborn screening for Pompe disease, such as false positives due to pseudodeficiency, have been largely eliminated and interference by anti-drug antibodies in certain individuals may be resolved by preventive immune modulation therapy. However, uncertainty regarding newly discovered genotypes and the onset age in later-onset individuals burden the clinicians, parents and babies and need to be further addressed carefully.

Keywords:

• enzyme replacement therapy
• glycogen storage disease type II
• lysosomal storage disorders
• newborn screening