Wilson's disease: Fatal when overlooked, curable when diagnosed

Wilson ’s disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene. Copper is an essential micronutrient which is incorporated into a variety of proteins and metalloenzymes (cytochrome C oxydase, superoxide dismutase, dopamine-ß hydroxylase, lysil-oxydase, tyrosinase), as we ll as being necessary for the proper growth, development, and function of many organs, including the liver, bone, connective tissue, brain, and heart.1,2
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Hepatology Snapshot Source Type: research