Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
Hepatosteatosis, a common condition, is increasing in prevalence. It is typically associated with diet, alcohol consumption and obesity. In some cases, a rare genetic disease may be the underlying defect. Lipid storage myopathy (LSM) is a genetic disease caused by lipid metabolism defects. LSM often...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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SMC MEDIA SRL
2020-10-01
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| Series: | European Journal of Case Reports in Internal Medicine |
| Subjects: | |
| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/1980 |
| _version_ | 1819237779038535680 |
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| author | Arda Yavuz Gökçen Ünverengil Ayşe Nur Toksöz Yıldırım Hatice Şeyma Maraşlı İlyas Tuncer |
| author_facet | Arda Yavuz Gökçen Ünverengil Ayşe Nur Toksöz Yıldırım Hatice Şeyma Maraşlı İlyas Tuncer |
| author_sort | Arda Yavuz |
| collection | DOAJ |
| description | Hepatosteatosis, a common condition, is increasing in prevalence. It is typically associated with diet, alcohol consumption and obesity. In some cases, a rare genetic disease may be the underlying defect. Lipid storage myopathy (LSM) is a genetic disease caused by lipid metabolism defects. LSM often affects the muscles, heart and liver. Coenzyme Q, riboflavin or carnitine replacement can be beneficial in some cases. We describe a patient who presented with liver failure and was unresponsive to treatment. |
| first_indexed | 2024-12-23T13:25:45Z |
| format | Article |
| id | doaj.art-4e722d73b5b14b15acc94eefa300ad36 |
| institution | Directory Open Access Journal |
| issn | 2284-2594 |
| language | English |
| last_indexed | 2024-12-23T13:25:45Z |
| publishDate | 2020-10-01 |
| publisher | SMC MEDIA SRL |
| record_format | Article |
| series | European Journal of Case Reports in Internal Medicine |
| spelling | doaj.art-4e722d73b5b14b15acc94eefa300ad362022-12-21T17:45:19ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942020-10-0110.12890/2020_0019801596Late-Onset Lipid Storage Myopathy with Fatal HepatosteatosisArda Yavuz0https://orcid.org/0000-0001-8577-124XGökçen Ünverengil1Ayşe Nur Toksöz Yıldırım2Hatice Şeyma Maraşlı3İlyas Tuncer4Department of Gastroenterology, Istanbul Medeniyet University, School of Medicine, Istanbul, TurkeyDepartment of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeyDepartment of Pathology, Istanbul Medeniyet University, School of Medicine, Istanbul, TurkeyDepartment of Internal Medicine, Istanbul Medeniyet University, School of Medicine, Istanbul, Turkey Department of Gastroenterology, Istanbul Medeniyet University, School of Medicine, Istanbul, TurkeyHepatosteatosis, a common condition, is increasing in prevalence. It is typically associated with diet, alcohol consumption and obesity. In some cases, a rare genetic disease may be the underlying defect. Lipid storage myopathy (LSM) is a genetic disease caused by lipid metabolism defects. LSM often affects the muscles, heart and liver. Coenzyme Q, riboflavin or carnitine replacement can be beneficial in some cases. We describe a patient who presented with liver failure and was unresponsive to treatment.https://www.ejcrim.com/index.php/EJCRIM/article/view/1980hepatosteatosislate-onset lipid storage myopathylipid storage disease |
| spellingShingle | Arda Yavuz Gökçen Ünverengil Ayşe Nur Toksöz Yıldırım Hatice Şeyma Maraşlı İlyas Tuncer Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis European Journal of Case Reports in Internal Medicine hepatosteatosis late-onset lipid storage myopathy lipid storage disease |
| title | Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis |
| title_full | Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis |
| title_fullStr | Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis |
| title_full_unstemmed | Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis |
| title_short | Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis |
| title_sort | late onset lipid storage myopathy with fatal hepatosteatosis |
| topic | hepatosteatosis late-onset lipid storage myopathy lipid storage disease |
| url | https://www.ejcrim.com/index.php/EJCRIM/article/view/1980 |
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