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Article

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Journal of inherited metabolic disease - 1 Jan 2023

Elsharkawi Ibrahim, Wongkittichote Parith, Daniel Earnest James Paul, Starosta Rodrigo Tzovenos, Ueda Keisuke, Ng Bobby G, Freeze Hudson H, He Miao, Shinawi Marwan

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of heterogeneous inherited metabolic disorders affecting posttranslational protein modification. DDOST-CDG, caused by biallelic pathogenic variants in DDOST which encodes dolichyl-diphospho-oligosaccharide-protein glycosyltransferase, a subunit of N-glycosylation oligosaccharyltransferase (OST) complex, is an ultra-rare condition that has been described in...

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PMID: 36214423
DOI: 10.1002/jimd.12565
PMCID: PMC9852036

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