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Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
Author(s) -
MarquesdaSilva D.,
Reis Ferreira V.,
Monticelli M.,
Janeiro P.,
Videira P. A.,
Witters P.,
Jaeken J.,
Cassiman D.
Publication year - 2017
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-016-0012-4
Subject(s) - cirrhosis , liver disease , glycosylation , medicine , liver failure , disease , phenotype , bioinformatics , biology , pathology , genetics , gene
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.