Pompe disease, a rare condition in two patients, case reports

Authors

  • Omar Yousef School of medicine, Mutah university
  • Mohammad Al-Jafari school of medicine, Mutah university
  • Mohammad Jaber school of medicine, Mutah university
  • Mutayam Abu-Qudairi school of medicine, Mutah university
  • Raja Al-Zreqat Pediatrics department, Albasheer hospital
  • Mohammad Abu-Jeyyab school of medicine, Mutah university

DOI:

https://doi.org/10.58877/japaj.v1i1.23

Keywords:

Pompe disease, genetic disorders, cardiomyopathy, enzyme replacement therapy

Abstract

Pompe disease, or type II glycogen storage disease, is a lysosomal storage disorder in which a deficiency in alpha-glucosidase results in the accumulation of glycogen, which eventually causes weakness to progressively increase and heart enlargement.

 Infantile-onset and late-onset forms of Pompe illness are distinguished. The heart is the organ most impacted by glycogen buildup in infantile-onset Pompe illness. A late-onset form, however, frequently presents as a weakening of the skeletal muscles that worsens over time.

The key factor used to make the diagnosis of Pompe illness is enzymology, which shows a lack of lysosomal acid alpha-glucosidase (GAA) activity, although molecular genetic testing for GAA mutations can also be used to confirm the diagnosis.

Recombinant human a glucosidase alfa and a large multidisciplinary team are required for the treatment of patients with Pompe disease (rhGAA, MyozymeR).

Two cases of Pompe disease are presented in this case-report. A 13-year-old female patient who is still alive and receiving enzyme replacement therapy, and a 5-month-old newborn who died from cardiomyopathy.

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Published

2023-01-27

How to Cite

Yousef, O., Al-Jafari , M., Jaber , M., Abu-Qudairi , M., Al-Zreqat, R., & Abu-Jeyyab , M. (2023). Pompe disease, a rare condition in two patients, case reports. JAP Academy Journal, 1(1). https://doi.org/10.58877/japaj.v1i1.23

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Section

Case Reports and Case Series

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