https://pubmed.ncbi.nlm.nih.gov/34173795/
J Pediatr Gastroenterol Nutr. 2021 Jun 24.
doi: 10.1097/MPG.0000000000003209.Online ahead of print.

Liver Involvement in Congenital Disorders of Glycosylation. A Systematic Review

Rossella Colantuono 1, Elisa D'Acunto, Daniela Melis, Pietro Vajro, Hudson H Freeze, Claudia Mandato

Abstract

An ever-increasing number of disturbances in glycosylation have been described to underlie certain unexplained liver diseases presenting either almost isolated or in a multi-organ context. We aimed to update previous literature screenings which had identified up to 23 forms of congenital disorders of glycosylation (CDG) with associated liver disease. We conducted a comprehensive literature search of PubMed and Google Scholar databases looking at articles published during the last 20 years (January 2000 - October 2020). Eligible studies were case reports/series reporting liver involvement in CDG patients. Our systematic review led us to point out 41 forms of CDG where liver is primarily affected (n = 7) or variably involved in a multisystem disease with mandatory neurological abnormalities (n=34). Herein we summarize individual clinical and laboratory presentation characteristics of these 41 CDGs and outline their main presentation and diagnostic cornerstones with the aid of two synoptic tables. Dietary supplementation strategies have hitherto been investigated only in 7 of these CDG types with liver disease, with a wide range of results. In conclusion the systematic review recognized a liver involvement in a somewhat larger number of CDG variants corresponding to about 30% of the total of CDG so far reported, and it is likely that the number may increase further. This information could assist in an earlier correct diagnosis and a possibly proper management of these disorders.