Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report

Authors

  • Bagheri, Maryam 1 Assistant Professor, Department of Physiology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran 2 Psychosocial Injuries Research Center, Ilam University of Medical Sciences, Ilam, Iran
  • Bazgir, Nasrin Assistant Professor, Clinical Research Development Unit, Shahid Mostafa Khomeini Hospital, Ilam University of Medical Science, Ilam, Iran
  • salari, Sajjad Assistant Professor, Department of Physiology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran
Abstract:

Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be atypical and lead to late recognition. This article reports a 32-year-old female with persistent fatigue and mild elevated liver transaminase levels. Biochemical analysis initially did not result in a diagnosis. Years later, increased Creatine kinase (CK) and lactate dehydrogenase (LDH) were observed. A muscle biopsy exhibited unusual glycogen accretion, followed by dried blood spot, indicative of Pompe disease. Notably, persistent raised levels of hepatic transaminases are not exclusive to liver pathology and clinicians should also consider extrahepatic causes.

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Journal title

volume 29  issue 180

pages  140- 145

publication date 2019-12

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