title: Adult liver disorders caused by inborn errors of metabolism: review and update.
abstract: Inborn errors of metabolism (IEMs) are a group of genetic diseases that have protean clinical manifestations and can involve several organ systems. The age of onset is highly variable but IEMs afflict mostly the pediatric population. However, in the past decades, the advancement in management and new therapeutic approaches have led to the improvement in IEM patient care. As a result, many patients with IEMs are surviving into adulthood and developing their own set of complications. In addition, some IEMs will present in adulthood. It is important for internists to have the knowledge and be familiar with these conditions because it is predicted that more and more adult patients with IEMs will need continuity of care in the near future. The review will focus on Wilson disease, alpha-1 antitrypsin deficiency, citrin deficiency, and HFE-associated hemochromatosis which are typically found in the adult population. Clinical manifestations and pathophysiology, particularly those that relate to hepatic disease as well as diagnosis and management will be discussed in detail.
authors.affiliation: Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA.
authors.forename: Sirisak
authors.initials: S
authors.lastname: Chanprasert
authors.affiliation: Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA. Electronic address: fscaglia@bcm.edu.
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D000328:Adult; D002135:Calcium-Binding Proteins / Q000172:deficiency; D002648:Child; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D000071020:Hemochromatosis Protein; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D027361:Organic Anion Transporters / Q000172:deficiency; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy
chemical_list: D002135:Calcium-Binding Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D027361:Organic Anion Transporters; C008822:citrin
keywords: Alpha-1 antitrypsin deficiency; Citrin deficiency; HFE-associated hemochromatosis; Inborn errors of metabolism; Wilson disease