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Updated: Dec 21, 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 2-Year-Old Child with Late-Onset Pompe Disease: a Case Report

Suyun Li, Cuiping Zhu, Peiqing Li

    Clinical Laboratory
    |May 12, 2020
    PubMed

    Insights

    Pompe disease, a genetic disorder causing muscle weakness, requires prompt diagnosis. This case highlights the importance of systematic assessment and sedation management in affected children.

    Area of Science:

    • Neurology
    • Genetics
    • Pediatrics

    Background:

    • Pompe disease is an inherited neuromuscular disorder.
    • It results from a deficiency in lysosomal acid alpha-glucosidase (GAA).
    • Glycogen accumulation in muscles and motor neurons characterizes the disease.

    Observation:

    • A case study of a 2-year-old child presenting with respiratory failure and generalized hypotonia.
    • Diagnostic procedures included imaging (radiographs, MRI) and muscle biopsy.
    • The child was diagnosed with Pompe disease.

    Findings:

    • Pompe disease diagnosis requires a systematic approach.
    • Effective sedation management is vital for patients.
    • Diagnostic tools confirmed the presence of Pompe disease.

    Implications:

    • Highlights the importance of differential diagnosis in pediatric respiratory distress.
    • Emphasizes the need for prompt and accurate diagnosis of Pompe disease.
    • Underscores the role of comprehensive patient assessment and supportive care, including sedation, in managing Pompe disease.
    Abstract

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