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Journal of Inherited Metabolic Disease

, Volume 40, Issue 2, pp 195–207 | Cite as

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

  • D. Marques-da-Silva
  • V. dos Reis Ferreira
  • M. Monticelli
  • P. Janeiro
  • P. A. Videira
  • P. Witters
  • J. JaekenEmail author
  • D. CassimanEmail author
Review

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.

Keywords

Liver Involvement Cutis Laxa Ductal Plate Malformation Conserve Oligomeric Golgi PMM2 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

AF

Alpha-fetoprotein

AP

Alkaline phosphatase

ALT

Alanine aminotransferase

AST

Aspartate aminotransferase

AT

Antithrombin

CDG

Congenital disorder(s) of glycosylation

CK

Creatine kinase

ER

Endoplasmic reticulum

ERGIC

Endoplasmic reticulum-Golgi intermediate compartment

γ-GT

Gamma-glutamyl transferase

IEF

Isoelectrofocusing

PT

Prothrombin time

PTT

Partial thromboplastin time

TA

Transaminases

Notes

Acknowledgements

Dorinda Marques da Silva acknowledges support from the “Second Liliana Scientific Scholarship 2016”. We also thank the CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies PPAIN), whose network expertise greatly helped this manuscript. We are grateful to Diogo Sampaio (http://www.diogosampaio.pt/), who helped design Fig. 1 of this publication.

Compliance with ethics guidelines

Conflict of interests

Vanessa dos Reis Ferreira is President and founder of the Portuguese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR). All other authors declare no competing financial interests.

Funding

This work was supported by the CDG Professionals and Patient Associations International Network(CDG & Allies – PPAIN) and Liliana Fellowships from APCDG attributed to Marques-da-Silva D. and Monticelli M. The authors confirmed independence from the sponsors, the content of the article has not been influenced by sponsors.

Supplementary material

10545_2016_12_MOESM1_ESM.docx (70 kb)
ESM 1 (DOCX 69 kb)

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Copyright information

© SSIEM 2017

Authors and Affiliations

  • D. Marques-da-Silva
    • 1
    • 2
    • 3
  • V. dos Reis Ferreira
    • 2
    • 3
  • M. Monticelli
    • 1
    • 4
  • P. Janeiro
    • 5
  • P. A. Videira
    • 1
    • 2
    • 3
  • P. Witters
    • 3
    • 6
  • J. Jaeken
    • 3
    • 6
    Email author
  • D. Cassiman
    • 3
    • 6
    Email author
  1. 1.UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e TecnologiaUniversidade NOVA de LisboaLisboaPortugal
  2. 2.Portuguese Association for CDGLisboaPortugal
  3. 3.CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN)CaparicaPortugal
  4. 4.Dipartimento di BiologiaUniversità degli Studi di Napoli “Federico II”NapoliItaly
  5. 5.Departamento de PediatriaUnidade de Doenças Metabólicas, CHLN, Hospital de Sta. MariaLisboaPortugal
  6. 6.Center for Metabolic DiseasesUZ and KU LeuvenLeuvenBelgium

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