Diagnosis and Care of Infants and Children with Pompe Disease

Klin Padiatr DOI: 10.1055/a-1110-7335Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced enzyme activity results in abnormal intra- and extralysosomal glycogen deposition as well as impaired cellular function and autophagy. Age at manifestation and severity of disease depend on residual enzyme activity. Enzyme replacement therapy (ERT) is available since 2006. In infantile onset Pompe disease, the most severe form, markedly prolonged survival has resulted in a new phenotype with symptoms and problems not encountered previously. In addition, it became apparent that antibody formation against the recombinant human enzyme may adversely affect the response to ERT. This review summarizes new knowledge gained in the last years concerning care of pediatric patients with Pompe disease and gives recommendations for diagnostics, treatment, and follow-up. [...] © © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Klinische Padiatrie - February 17, 2020 Category: Pediatrics Authors: Hahn, Andreas Hennermann, Julia B. Huemer, Martina Kampmann, Christoph Marquardt, Thorsten Mengel, Eugen M üller-Felber, Wolfgang Muschol, NicoleMaria Rohrbach, Marianne Stehling, Florian Tags: Diagnostic and Treatment Recommendation Source Type: research