Yavuz, Arda and Ünverengil, Gökçen and Toksöz Yıldırım, Ayşe Nur and Şeyma Maraşlı, Hatice and Tuncer, İlyas (2020) Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis. European Journal of Case Reports in Internal Medicine, 7 (12). pp. 1-4. ISSN ISSN: 2284-2594
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Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Hepatosteatosis, late-onset lipid storage myopathy, lipid storage disease |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 20 Dec 2021 14:33 |
| Last Modified: | 20 Dec 2021 14:33 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21130 |
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