Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Late-onset pompe disease with elevated liver transaminases: A case report

Mon Apr 15 16:48:27 2024

(2019) Late-onset pompe disease with elevated liver transaminases: A case report. Journal of Mazandaran University of Medical Sciences. pp. 140-145. ISSN 17359279 (ISSN)

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Official URL: https://www.scopus.com/inward/record.uri?eid=2-s2....

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. © 2019, Mazandaran University of Medical Sciences. All rights reserved.

Item Type: Article
Creators:
CreatorsEmail
Bagheri, M.UNSPECIFIED
Bazgir, N.UNSPECIFIED
Salari, S.UNSPECIFIED
Keywords: Late onset pompe disease Myopathy Myozyme Transaminases
Divisions:
Page Range: pp. 140-145
Journal or Publication Title: Journal of Mazandaran University of Medical Sciences
Journal Index: Scopus
Volume: 29
Number: 180
ISSN: 17359279 (ISSN)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/2892

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