Related Experiment Video

Updated: May 3, 2026

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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Pompe disease with heterogeneous presentations within a family

Myftar Barbullushi1, Alma Idrizi2, Eriola Bolleku2

  • 1Service of Nephrology, UHC "Mother Teresa", Tirana, Albania. m_barbullushi@yahoo.com

Medical Archives (Sarajevo, Bosnia and Herzegovina)
|February 14, 2014
PubMed

Insights

Pompe disease, a glycogen storage disorder, causes progressive muscle weakness. This study details a family

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Pompe disease, or acid maltase deficiency, is a rare genetic disorder impacting glycogen metabolism.
  • It is a type of glycogen storage disease (GSD) affecting various age groups with progressive myopathy.
  • Respiratory muscle weakness is a hallmark, often leading to mortality.

Observation:

  • This report details a family exhibiting a wide spectrum of Pompe disease.
  • Cases included varying ages of onset, disease severity, and progression rates.
  • Twin adult-onset patients experienced acute renal failure and respiratory insufficiency.

Findings:

  • The described family showcases the diverse clinical manifestations of Pompe disease.
  • Adult-onset Pompe disease can present with acute complications like renal and respiratory failure.
  • Prompt management led to a favorable outcome in the twin patients.

Implications:

  • Understanding the clinical variability of Pompe disease is crucial for timely diagnosis.
  • Early recognition and intervention can improve outcomes in patients with acute Pompe disease complications.
  • This family's experience highlights the importance of comprehensive patient monitoring and management strategies.

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