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Related Experiment Video

Updated: Jul 7, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

Marian A Kroos1, Janbernd Kirschner, Frank N Gellerich

  • 1Department of Clinical Genetics, Erasmus MC, P.O. Box 1738, Rotterdam 3000 DR, The Netherlands.

Neuromuscular Disorders : NMD
|May 18, 2004
PubMed
Summary

Genetic factors and secondary influences can alter the presentation of Pompe disease. Extremely low acid alpha-glucosidase activity may lead to varied clinical outcomes, from infantile to childhood forms.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Pompe disease is a rare genetic disorder caused by deficiency of the enzyme acid alpha-glucosidase.
  • The disease presents with a spectrum of severity, broadly classified into infantile and late-onset forms.

Observation:

  • A six-year-old child exhibited proximal muscle weakness and cardiac hypertrophy, with minimal acid alpha-glucosidase activity detected in muscle tissue.
  • Specific genetic mutations identified in the patient did not fully explain the observed phenotype when tested in vitro.
  • Previous research linked similar mutations to classic infantile Pompe disease.

Findings:

  • The patient's genotype, despite carrying mutations associated with severe Pompe disease, did not result in a classic infantile presentation.
  • Extremely low levels of acid alpha-glucosidase activity were present, suggesting a residual functional capacity.

Implications:

  • This case highlights that genetic mutations alone may not solely determine the phenotypic outcome in Pompe disease.
  • Secondary genetic or environmental factors likely play a crucial role in modulating disease severity and presentation.
  • Understanding these modulators is essential for accurate diagnosis and predicting disease progression in Pompe disease.