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International Journal of Hepatology
Volume 2014, Article ID 713754, 11 pages
Review Article

Genetic Diseases That Predispose to Early Liver Cirrhosis

1CEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy
2Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy
3Università Telematica Pegaso, Piazza Trieste e Trento 48, 80132 Napoli, Italy
4Dipartimento di Bioscienze e Territorio, Università del Molise, Contrada Fonte Lappone, Pesche, 86090 Isernia, Italy

Received 7 May 2014; Accepted 30 June 2014; Published 14 July 2014

Academic Editor: Mohammad Ahmad al-Shatouri

Copyright © 2014 Manuela Scorza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Inherited liver diseases are a group of metabolic and genetic defects that typically cause early chronic liver involvement. Most are due to a defect of an enzyme/transport protein that alters a metabolic pathway and exerts a pathogenic role mainly in the liver. The prevalence is variable, but most are rare pathologies. We review the pathophysiology of such diseases and the diagnostic contribution of laboratory tests, focusing on the role of molecular genetics. In fact, thanks to recent advances in genetics, molecular analysis permits early and specific diagnosis for most disorders and helps to reduce the invasive approach of liver biopsy.