title: Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.
abstract: Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening. Sixteen of the patients we collated here developed cirrhosis, 10 had liver failure. We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG, and on the other hand, the CDG types associated with liver disease but not as a striking, unique or predominant feature, including PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG. This review aims to facilitate CDG patient identification and to understand CDG liver involvement, hopefully leading to earlier diagnosis, and better management and treatment.
authors.affiliation: UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.|Portuguese Association for CDG, Lisboa, Portugal.|CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.
authors.forename: D
authors.initials: D
authors.lastname: Marques-da-Silva
authors.affiliation: Portuguese Association for CDG, Lisboa, Portugal.|CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.
authors.forename: V
authors.initials: V
authors.lastname: Dos Reis Ferreira
authors.affiliation: UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.|Dipartimento di Biologia, Università degli Studi di Napoli "Federico II", Napoli, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Monticelli
authors.affiliation: Departamento de Pediatria, Unidade de Doenças Metabólicas, CHLN, Hospital de Sta. Maria, Lisboa, Portugal.
authors.forename: P
authors.initials: P
authors.lastname: Janeiro
authors.affiliation: UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.|Portuguese Association for CDG, Lisboa, Portugal.|CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.
authors.forename: P A
authors.initials: PA
authors.lastname: Videira
authors.affiliation: CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.|Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Witters
authors.affiliation: CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal. jaak.jaeken@kuleuven.be.|Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium. jaak.jaeken@kuleuven.be.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.affiliation: CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal. david.cassiman@kuleuven.be.|Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium. david.cassiman@kuleuven.be.
authors.forename: D
authors.initials: D
authors.lastname: Cassiman
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000473:pathology*; D006031:Glycosylation; D006801:Humans; D008099:Liver / Q000473:pathology*