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Article

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

Journal of inherited metabolic disease - 1 Nov 2020

Park Julien H, Mealer Robert G, Elias Abdallah F, Hoffmann Susanne, Grüneberg Marianne, Biskup Saskia, Fobker Manfred, Haven Jaclyn, Mangels Ute, Reunert Janine, Rust Stephan, Schoof Jonathan, Schwanke Corbin, Smoller Jordan W, Cummings Richard D, Marquardt Thorsten

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a growing group of inborn metabolic disorders with multiorgan presentation. SLC39A8-CDG is a severe subtype caused by biallelic mutations in the manganese transporter SLC39A8, reducing levels of this essential cofactor for many enzymes including glycosyltransferases. The current diagnostic standard for disorders of N-glycosylation is the analysis of serum...

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PMID: 32852845
DOI: 10.1002/jimd.12306
PMCID: PMC8086894

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