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

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BAGHERI MARYAM; BAZGIR NASRIN; SALARI SAJJAD

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

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Journal: Journal of Mazandaran University of Medical Sciences Year:2020 | Volume:29 | Issue:180 Page(s): 140-145

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Information Journal Paper

Title

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

Author(s)

BAGHERI MARYAM | BAZGIR NASRIN | SALARI SAJJAD | Issue Writer Certificate

Keywords

late onset pompe diseaseQ1

transaminasesQ2

myopathyQ2

myozymeQ1

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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APA: Copy

BAGHERI, MARYAM, BAZGIR, NASRIN, & SALARI, SAJJAD. (2020). Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 29(180 ), 140-145. SID. https://sid.ir/paper/395548/en

Vancouver: Copy

BAGHERI MARYAM, BAZGIR NASRIN, SALARI SAJJAD. Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2020;29(180 ):140-145. Available from: https://sid.ir/paper/395548/en

IEEE: Copy

MARYAM BAGHERI, NASRIN BAZGIR, and SAJJAD SALARI, “Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 29, no. 180 , pp. 140–145, 2020, [Online]. Available: https://sid.ir/paper/395548/en

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