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PMID: 28108845 Published · ppublish English Journal Article Review Systematic Review

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Journal of inherited metabolic disease ·Vol. 40 ·No. 2 ·2017-00-00 ·Pages 195-207

Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D

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.

MeSH Terms
Congenital Disorders of Glycosylation/diagnosis,pathology Glycosylation Humans Liver/pathology
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Marques-da-Silva D
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.
Dos Reis Ferreira V
Portuguese Association for CDG, Lisboa, Portugal. | CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.
Monticelli M
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.
Janeiro P
Departamento de Pediatria, Unidade de Doenças Metabólicas, CHLN, Hospital de Sta. Maria, Lisboa, Portugal.
Videira P A
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.
Witters P
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal. | Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium.
Jaeken J
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.
Cassiman D
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.
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Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
1573-2665
DOI
10.1007/s10545-016-0012-4
Email
jaak.jaeken@kuleuven.be
david.cassiman@kuleuven.be
Published
2017-00-00
Epub
2017-00-20
Pages
195-207
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1007/s10545-016-0012-4 View journal details
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