Format

Send to

Choose Destination
J Inherit Metab Dis. 2018 Feb 1. doi: 10.1007/s10545-017-0119-2. [Epub ahead of print]

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review.

Author information

1
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisbon, Portugal.
2
Portuguese Association for CDG, Lisbon, Portugal.
3
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.
4
Center for Metabolic Disease, KU Leuven, Leuven, Belgium.
5
Discipline of Paediatrics and Child Health, University of Queensland, Queensland Children's Hospital, Brisbane, QLD, Australia.
6
Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
7
Portuguese Association for CDG, Lisbon, Portugal. sindromecdg@gmail.com.
8
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal. sindromecdg@gmail.com.

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.

PMID:
29392584
DOI:
10.1007/s10545-017-0119-2

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center