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• W2014984744 abstract "Purpose of review Elucidation of metabolic pathways for copper and iron improved our understanding of Wilson disease and genetic hemochromatosis. Some inherited liver diseases are now characterized by protein-folding mutations, including Gaucher disease, cystic fibrosis and ZZ α1-antitrypsin deficiency. Studies now focus on associations between glycogen storage disease, hepatic adenoma formation and transformation to hepatocellular carcinoma. Continued progress in the study of the diagnosis, natural history and treatment of inherited liver diseases is the subject of this review. Recent findings Further understanding of metabolic pathways for iron and copper have led to a search for factors that modify phenotypic expression of Wilson disease and genetic hemochromatosis. Hepcidin plays a key role in modulating iron uptake in iron-overload disorders and new studies elucidate hepcidin regulation. For glycogen storage diseases, studies on the natural history and hepatocellular transformation necessitate tumor surveillance and possible early transplantation. A better understanding of genetic and nongenetic modifiers in ZZ α1-antitrypsin deficiency and other disorders of protein misfolding will improve our ability to manage these patients. Summary Recent discoveries in iron, copper and glycogen metabolism advance our ability to diagnose and treat inherited metabolic diseases of the liver. Some of these important findings are detailed in this review." @default.
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• W2014984744 date "2008-05-01" @default.
• W2014984744 modified "2023-10-11" @default.
• W2014984744 title "Inherited metabolic disease of the liver" @default.
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• W2014984744 doi "https://doi.org/10.1097/mog.0b013e3282fcbc0f" @default.
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