Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Abstract

Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% of these CDG. The ophthalmic manifestations in N-glycosylation-deficient patients have been described elsewhere. The present review documents the spectrum and incidence of eye disorders in patients with pure O-glycosylation defects with the aim of assisting diagnosis and management and promoting research.

Directly Reprogrammed Neurons as a Tool to Assess Neurotoxicity of the Contaminant 4-Hydroxy-2′,3,5,5′-tetrachlorobiphenyl (4′OH-CB72) in Melon-Headed Whales

“…There are over 25 congenital disorders of glycosylation related to O-glycosylation disturbances. 50 Disruptions of several O-linked protein glycosylations such as Omannose glycosylation and proteoglycans also cause neurological defects. 51 Other neuron-related pathways including Gprotein-coupled receptors (GPCRs), axon guidance, ECM degradation, and focal adhesion were also altered by 4′OH-CB72.…”

“…Additionally, O -glycosylation is an important post-translational modification required for functional regulation of many proteins. There are over 25 congenital disorders of glycosylation related to O -glycosylation disturbances . Disruptions of several O -linked protein glycosylations such as O -mannose glycosylation and proteoglycans also cause neurological defects .…”

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation

“…Some 160 CDG and over 200 CDG phenotypes are currently known, with PMM2-CDG being the most prevalent [ 2 , 3 ]. CDG are clinically and biologically diverse, mainly presenting with predominant neurological involvement, accompanied by multi-organ impairment, among which are the eyes, the liver, the heart and the immune system [ 4 , 5 , 6 , 7 ]. Unfortunately, effective treatments are available for very few CDG.…”

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

“…It is noteworthy that several conditions besides CDG are associated with altered TfIEF results, such as galactosemia, hereditary fructose intolerance, 7 , 8 liver disease, chronic alcohol abuse, infections by neuraminidase-producing microorganisms, and transferrin polymorphisms. 9 , 10 , 11 , 12 …”