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Diagnosis and Care of Infants and Children with Pompe Disease.
Journal article

Diagnosis and Care of Infants and Children with Pompe Disease.

  • Hahn A Zentrum für Kinderheilkunde und Jugendmedizin der JLU Gießen, Abt. Neuropädiatrie, Sozialpädiatrie und Epileptologie - Sozialpädiatrisches Zentrum, Gießen, Germany.
  • Hennermann JB Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Huemer M Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
  • Kampmann C Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Marquardt T Department of Pediatrics, Westfälische Wilhelms University Münster, Münster, Germany.
  • Mengel E Clinical Science for LSD, SpinCS, Hochheim, Germany.
  • Müller-Felber W Pediatric neurology, Dr. v. Haunersche Kinderklinik, München.
  • Muschol N Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Rohrbach M Abteilung für Stoffwechselerkrankungen und Forschungszentrum für das Kind, Universitäts-Kinderspital Zurich, Zurich, Switzerland.
  • Stehling F Kinderklinik 1, Universitätsklinik Essen, Essen, Germany.
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  • 2020-02-19
Published in:
  • Klinische Padiatrie. - 2020
Pediatrics, Perinatology, and Child Health
English Pompe 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.
Language
  • English
Open access status
closed
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Persistent URL
https://sonar.ch/global/documents/107712
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