Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.
Keywords: Alpha-1 antitrypsin deficiency; Benign recurrent intrahepatic cholestasis; Genetic testing; Gilbert syndrome; Hemochromatosis; Lysosomal acid lipase deficiency; Progressive familial intrahepatic cholestasis; Wilson disease.
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