Related Experiment Video

Updated: Oct 3, 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

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A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case

Meltem Bor1, Ozkan Ilhan1, Evren Gumus2

  • 1Department of Neonatology, Harran University School of Medicine, Sanliurfa, Turkey.

Journal of Pediatric Intensive Care
|February 18, 2022
PubMed

Insights

Early enzyme replacement therapy (ERT) for infantile-onset Pompe disease (PD) in newborns significantly improves cardiac function and motor development. Prompt diagnosis and treatment are crucial for better outcomes in this rare genetic disorder.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pediatrics

Background:

  • Pompe disease (PD) is a rare, autosomal recessive lysosomal storage disorder caused by acid α-1,4-glucosidase enzyme (GAA) deficiency.
  • Infantile-onset PD often leads to severe cardio-respiratory failure and mortality within the first year of life if untreated.

Observation:

  • A newborn presented with infantile-onset PD, exhibiting muscular hypotonia, respiratory distress, hypertrophic cardiomyopathy, and hepatomegaly.
  • Biochemical tests revealed markedly elevated serum enzymes (AST, ALT, LDH, CK) and significantly decreased GAA enzymatic activity in dried blood spots.
  • Genetic analysis confirmed a homozygous c.896T >C (p.Leu299Pro) mutation in the *GAA* gene.

Findings:

  • Initiation of enzyme replacement therapy (ERT) at 28 days of age led to rapid improvement, including weaning from respiratory support within one week.
  • Cardiac abnormalities normalized, and the infant demonstrated normal neuromotor development by 16 months of age.

Implications:

  • This case highlights the critical importance of early diagnosis and prompt initiation of ERT in the neonatal period for infantile-onset PD.
  • Early intervention can significantly improve cardiac function, motor development, and overall prognosis in affected infants.

Keywords:
enzyme replacement therapyhypertrophic cardiomyopathyinfantile-onset Pompe diseasenewborn

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