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Fatty homocystinuria liver is the accumulation of triglycerides and other fats in liver cells. In some patients, this may be accompanied by hepatic inflammation and homocystinuria liver cell death (steatohepatitis). Potential pathophysiological mechanisms include (1) decreased mitochondrial fatty acid beta-oxidation, (2) increased endogenous fatty acid synthesis or enhanced delivery of fatty acids to the homocystinuria liver, and (3) deficient incorporation or export of triglycerides as very-low density lipoprotein.Frequency: In the US: Steatosis affects approximately 25% of the general population. Steatohepatitis may be related to alcohol-induced hepatic damage or may be unrelated to alcohol (ie, NASH). NASH has been detected in 1.2-9% of patients undergoing routine liver biopsy. NAFLD is found in over 80% of patients who are obese. Over 50% of patients undergoing bariatric surgery have NASH. Mortality/Morbidity: Steatosis is a benign condition, and progression is very rare. Steatohepatitis may progress to liver fibrosis and cirrhosis and may result in liver-related morbidity and mortality.
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