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

Animals Congenital Disorders of Glycosylation / diagnosis Eye Diseases / diagnosis Glycosylation Humans

Journal

Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918

Informations de publication

Date de publication:
01 2019
Historique:
entrez: 12 2 2019
pubmed: 12 2 2019
medline: 2 4 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1002/jimd.12025 PMID: 30740740
pubmed: 30740740
doi: 10.1002/jimd.12025
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Systematic Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

29-48

Informations de copyright

© 2018 SSIEM.

Auteurs

Rita Francisco (R)

UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisbon, Portugal.
Portuguese Association for CDG, Lisbon, Portugal.
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.

Carlota Pascoal (C)

UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisbon, Portugal.
Portuguese Association for CDG, Lisbon, Portugal.
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.

Dorinda Marques-da-Silva (D)

UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisbon, Portugal.
Portuguese Association for CDG, Lisbon, Portugal.
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.

Eva Morava (E)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.
Center for Metabolic Disease, KU Leuven, Leuven, Belgium.

Glen A Gole (GA)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.
Discipline of Paediatrics and Child Health, University of Queensland, Queensland Children's Hospital, Brisbane, Queensland, Australia.

David Coman (D)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.
Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.

Jaak Jaeken (J)

CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.
Center for Metabolic Disease, KU Leuven, Leuven, Belgium.

Vanessa Dos Reis Ferreira (V)

Portuguese Association for CDG, Lisbon, Portugal.
CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Lisbon, Portugal.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Keeping an eye on congenital disorders of...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme glucidique › Troubles congénitaux de la glycosylation › Keeping an eye on congenital disorders of...
questionsmedicales.fr › Maladies de l'oeil › Keeping an eye on congenital disorders of...
questionsmedicales.fr › Métabolisme › Métabolisme glucidique › Glycosylation › Keeping an eye on congenital disorders of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Keeping an eye on congenital disorders of...