Fig. 4

Galactose metabolism, glycosylation and inflammatory cascades in galactosaemia. a In galactosaemia, the Leloir pathway is disrupted with the absence of GALT, leading to an increase of Gal-1-P and disruption of UDP-hexose turnover. b Increased Gal-1-P levels may lead to cellular toxicity and ER stress, with competitive inhibition of glycosyltransferases and inhibition of UDP-hexose pyrophosphorylases. T [6, 11,12,13]. Disrupted glycosylation may lead to an upregulation of glycan synthesis genes. Abnormal glycosylation of IgG may lead to an activated immune conformation [36] and increased expression of anti-inflammatory genes. Leptin expression, influenced by abnormal glycosylation, cross signals with the HPG axis and gonadal function [52, 53]