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J Inherit Metab Dis. 2017 Mar;40(2):195-207. doi: 10.1007/s10545-016-0012-4. Epub 2017 Jan 20.

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

Author information

1
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
2
Portuguese Association for CDG, Lisboa, Portugal.
3
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal.
4
Dipartimento di Biologia, Università degli Studi di Napoli "Federico II", Napoli, Italy.
5
Departamento de Pediatria, Unidade de Doenças Metabólicas, CHLN, Hospital de Sta. Maria, Lisboa, Portugal.
6
Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium.
7
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal. jaak.jaeken@kuleuven.be.
8
Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium. jaak.jaeken@kuleuven.be.
9
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Caparica, Portugal. david.cassiman@kuleuven.be.
10
Center for Metabolic Diseases, UZ and KU Leuven, Leuven, Belgium. david.cassiman@kuleuven.be.

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.

PMID:
28108845
DOI:
10.1007/s10545-016-0012-4
[Indexed for MEDLINE]

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