Journal article

Publication year: 2020

Pages: 55-61

Journal: Klinische Pädiatrie

Volume number: 232

Issue number: 2

ISSN: 0300-8630

eISSN: 1439-3824

DOI Link: https://doi.org/10.1055/a-1110-7335

Publisher: Georg Thieme Verlag

Abstract: 
Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal alpha- 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.

Harvard Citation style: Hahn, A., Hennermann, J., Huemer, M., Kampmann, C., Marquardt, T., Mengel, E., et al. (2020) Diagnosis and Care of Infants and Children with Pompe Disease, Klinische Pädiatrie, 232(2), pp. 55-61. https://doi.org/10.1055/a-1110-7335

APA Citation style: Hahn, A., Hennermann, J., Huemer, M., Kampmann, C., Marquardt, T., Mengel, E., Mueller-Felber, W., Muschol, N., Rohrbach, M., & Stehling, F. (2020). Diagnosis and Care of Infants and Children with Pompe Disease. Klinische Pädiatrie. 232(2), 55-61. https://doi.org/10.1055/a-1110-7335