Document Type : Original article
Authors
1 Department of Medical biochemistry, isfahan univerisity of medical sciences, Isfahan, Iran.
2 Department of Clinical Biochemistry, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran.
3 Immunobiochemistry Lab, Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
4 Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran
Abstract
Introduction: Pompe Disease is a type of lysosomal storage disease that is caused by a deficiency of the lysosomal alpha glucosidase. Pompe disease, as a multi-systemic disorder has a broad spectrum of clinical symptoms. The objective of this research was to validate and standardize the fluorometric method to detect alpha glucosidase activity, which can be used to identify patients with Pompe disease.
Methods: This study was performed on 45 Pompe patients and 50 healthy control subjects. Dried blot spots were collected and subjected to an alpha glucosidase activity assay using the fluorometric method. The obtained fluorometric outcomes were then compared to those of the validated MS-MS method.
Results: The control group showed a greater level of lysosomal alpha glucosidase activity compared to patients with Pompe disease (P value <0.001). A strong correlation was observed between fluorometric and MS-MS methods, as indicated by the high correlation coefficient (R2=0.955).
Conclusion:Accurate and reliable detection of Pompe disease is based on laboratory diagnosis. Alpha glucosidase activity assays are used for initial diagnosis because of they are cost-effective and simple. However, the current research shows that the fluorometric method is also a reliable, cost-effective, and simple alternative to identify Pompe disease.
Keywords
)