Glycoprocessing in classical galactosaemia / Barry Denison Lewis

Abstract

This thesis presents a hypothesis that there are abnormalities of N-glycosylation in classical galactosaemia and that these abnormalities could contribute to the long-term complications. The aim of the thesis is to characterise and model N-glycosylation in skin fibroblasts from patients with galactosaemia. The study identifies a disturbance in the synthesis and processing of dolichol-linked oligosaccharides. It is anticipated that the serum glycoproteins in untreated galactosaemia may contain N-glycans that are partly absent or truncated.