The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE

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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

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Waseem Fathalla1, Elamin Ahmed

  • 1Division of Pediatric Neurology, Pediatric Institute, Sheikh Khalifa Medical City, 51900, Abu Dhabi, UAE, wfathalla@yahoo.com.

JIMD Reports
|February 23, 2013
PubMed

Insights

Early diagnosis and enzyme replacement therapy (ERT) improve outcomes for infantile Pompe disease. Increased awareness and prompt treatment are crucial for managing this rare genetic disorder, shifting the focus from mortality to morbidity.

Area of Science:

  • Pediatric rare diseases
  • Metabolic myopathies
  • Genetic disorders

Background:

  • Infantile Pompe disease is a severe, progressive neuromuscular disorder.
  • Historically, diagnosis was delayed, leading to poor outcomes.
  • The advent of enzyme replacement therapy (ERT) has altered the disease's natural history.

Purpose of the Study:

  • To review experience with infantile Pompe disease.
  • To assess the impact of treatment availability on patient awareness, diagnosis, and management.
  • To highlight changes in the natural history and management challenges in the ERT era.

Main Methods:

  • Case-review study of diagnosed infantile Pompe disease patients.
  • Literature search for relevant studies.
  • Diagnosis confirmed via muscle biopsy or enzyme assay (peripheral blood lymphocytes/dried blood spot).

Main Results:

  • Five cases of infantile Pompe disease were identified.
  • Diagnosis methods evolved from muscle biopsy to enzyme assays.
  • Two patients died later than the typical median age for untreated cases; one infant died at 2 months despite one ERT dose.
  • Two surviving siblings, one diagnosed prenatally, received ERT within 24 hours of birth, representing the youngest treated patient.

Conclusions:

  • The natural history of infantile Pompe disease is evolving with ERT.
  • Increased awareness and early ERT access lead to better outcomes.
  • Managing infantile Pompe disease in the ERT era presents new challenges, shifting the burden from mortality to morbidity.
Abstract

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