Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report
| Title: | Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report |
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| Authors: | Maryam Bagheri, Nasrin Bazgir, Sajjad salari |
| Source: | Journal of Mazandaran University of Medical Sciences, Vol 29, Iss 180, Pp 140-145 (2019) |
| Publisher Information: | Mazandaran University of Medical Sciences, 2019. |
| Publication Year: | 2019 |
| Collection: | LCC:Medicine LCC:Medicine (General) |
| Subject Terms: | late onset pompe disease, transaminases, myopathy, myozyme, Medicine, Medicine (General), R5-920 |
| More Details: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English Persian |
| ISSN: | 1735-9260 1735-9279 |
| Relation: | http://jmums.mazums.ac.ir/article-1-13030-en.html; https://doaj.org/toc/1735-9260; https://doaj.org/toc/1735-9279 |
| Access URL: | https://doaj.org/article/cccc6d3d4cdd4830bd9d9f993999b7f0 |
| Accession Number: | edsdoj.6d3d4cdd4830bd9d9f993999b7f0 |
| Database: | Directory of Open Access Journals |
| ISSN: | 17359260 17359279 |
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| Published in: | Journal of Mazandaran University of Medical Sciences |
| Language: | English Persian |