Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
Arda Yavuz, Gökçen Ünverengil, Ayşe Nur Toksöz Yıldırım and 2 more
European Journal of Case Reports in Internal Medicine · 2020
doi:10.12890/2020_001980 (opens in a new tab)
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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.
Abstract licence: CC BY-NC-ND
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