Related Experiment Video

Updated: Dec 28, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

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Diagnosis and Care of Infants and Children with Pompe Disease

Andreas Hahn1, Julia B Hennermann2, Martina Huemer3

  • 1Zentrum für Kinderheilkunde und Jugendmedizin der JLU Gießen, Abt. Neuropädiatrie, Sozialpädiatrie und Epileptologie - Sozialpädiatrisches Zentrum, Gießen, Germany.

Klinische Padiatrie
|February 19, 2020
PubMed

Insights

Pompe disease, a rare metabolic myopathy, requires updated care strategies. This review covers new knowledge on pediatric Pompe disease diagnostics, treatment, and follow-up, including enzyme replacement therapy (ERT) challenges.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Pompe disease is a rare metabolic myopathy due to lysosomal α-glucosidase deficiency.
  • Glycogen accumulation impairs cellular function and autophagy, with disease severity linked to residual enzyme activity.
  • Enzyme replacement therapy (ERT) has improved survival, particularly in infantile-onset cases, revealing new long-term challenges.

Purpose of the Study:

  • To review recent advancements in the care of pediatric Pompe disease patients.
  • To provide updated recommendations for the diagnosis, treatment, and follow-up of this condition.
  • To address emerging issues such as antibody formation against ERT.

Main Methods:

  • Literature review of recent scientific publications and clinical data.
  • Synthesis of current knowledge on Pompe disease pathophysiology and management.
  • Development of evidence-based recommendations for clinical practice.

Main Results:

  • Prolonged survival in infantile Pompe disease has unveiled novel phenotypes and complications.
  • Antibody formation against recombinant enzyme therapy can negatively impact treatment response.
  • New insights into disease management necessitate updated diagnostic and therapeutic approaches.

Conclusions:

  • Comprehensive and updated care strategies are crucial for pediatric Pompe disease.
  • Monitoring for ERT-related antibodies and managing new phenotypes are key concerns.
  • Continued research and clinical vigilance are essential for optimizing patient outcomes.

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