Reporting 7 Pompe Patients in Iran

Document Type : Case Series

Authors

1 MSc Student, Department of Laboratory Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

2 Assistant Professor, Department of Community and Family Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

3 Associate Professor, Department of Clinical Biochemistry, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Pompe is a progressive and rare disease with major form (infantile form) resulted from lack of lysosomal alpha-glucosidase enzyme. This disease inherits in an autosomal recessive form and contains spectrum of different symptoms based on the age of onset. The variety of symptoms has seen in this disease like muscle weakness, cardio pulmonary problems, disability in daily routine works, and so on.Case Report: In this case study, we studied the characteristics of 7 established patients in Iran recognized from 8 years ago. The age range of these patients was from 6 months to 28 years.Conclusion: Different diagnosis time in patients, which is important, in this study was between 6 months to 28 years, which could cause many problems in patients whom their diagnosis was delayed.

Keywords

References

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Journal of Isfahan Medical School
Volume 35, Issue 424 - Serial Number 424
January and February 2017
Pages 364-367

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History

  • Receive Date: 24 December 2016
  • Revise Date: 03 May 2024
  • Accept Date: 06 April 2022

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