Related Experiment Video

Updated: Aug 28, 2025

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

Published on: December 20, 2017

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The Clinical Management of Pompe Disease: A Pediatric Perspective

Jorge Sales Marques1,2

  • 1Conde S. Januário Hospital, Macau 999078, China.

Children (Basel, Switzerland)
|September 23, 2022
PubMed

Insights

Pompe disease (PD) is a rare inherited disorder causing muscle damage due to glycogen buildup. Early diagnosis via newborn screening and enzyme replacement therapy (ERT) are crucial for better outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Pompe disease (PD) results from acid α-glucosidase (GAA) deficiency, causing glycogen accumulation in muscles and nerves.
  • This leads to cellular dysfunction, muscle damage, and potentially early death, especially in infantile-onset PD (IOPD).
  • Rarity and overlapping symptoms complicate early diagnosis and treatment.

Purpose of the Study:

  • To review common clinical presentations of Pompe disease.
  • To outline essential management strategies for PD.
  • To highlight the impact of newborn screening (NBS) and enzyme replacement therapy (ERT) in PD.

Main Methods:

  • Literature review of Pompe disease clinical presentations.
  • Analysis of management strategies for PD.
  • Evaluation of newborn screening (NBS) implications and ERT clinical performance.

Main Results:

  • PD presents with diverse, overlapping symptoms, hindering timely diagnosis.
  • Early diagnosis and treatment are critical to prevent severe organ damage.
  • Newborn screening (NBS) and ERT show promise in improving PD patient outcomes.

Conclusions:

  • Effective PD management requires early identification and intervention.
  • Newborn screening (NBS) facilitates prompt diagnosis of PD.
  • Enzyme replacement therapy (ERT) is a key treatment modality for Pompe disease.

Keywords:
Pompe diseasealglucosidase alphaclinical managementenzyme replacement therapynewborn screening

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