title: Genetic diseases that predispose to early liver cirrhosis.
abstract: 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.
authors.affiliation: CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy ; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Manuela
authors.identifier: 0000-0002-0671-3664
authors.initials: M
authors.lastname: Scorza
authors.affiliation: CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy ; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy ; Università Telematica Pegaso, Piazza Trieste e Trento 48, 80132 Napoli, Italy.
authors.forename: Ausilia
authors.identifier: 0000-0002-7421-6176
authors.initials: A
authors.lastname: Elce
authors.affiliation: CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy ; Dipartimento di Bioscienze e Territorio, Università del Molise, Contrada Fonte Lappone, Pesche, 86090 Isernia, Italy.
authors.forename: Federica
authors.identifier: 0000-0003-1614-6816
authors.initials: F
authors.lastname: Zarrilli
authors.affiliation: CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy ; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Renato
authors.initials: R
authors.lastname: Liguori
authors.affiliation: CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy ; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Felice
authors.identifier: 0000-0002-0596-2933
authors.initials: F
authors.lastname: Amato
authors.affiliation: CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy ; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Giuseppe
authors.identifier: 0000-0002-4036-0874
authors.initials: G
authors.lastname: Castaldo