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Article

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Journal of inherited metabolic disease - 1 Sept 2022

Albokhari Daniah, Ng Bobby G, Guberinic Alis, Daniel Earnest James Paul, Engelhardt Nicole M, Barone Rita, Fiumara Agata, Garavelli Livia, Trimarchi Gabriele, Wolfe Lynne, Raymond Kimiyo M, Morava Eva, He Miao, Freeze Hudson H, Lam Christina, Edmondson Andrew C

Abstract excerpt

Congenital disorders of glycosylation are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid glycan biosynthesis. These disorders mostly manifest with multisystem involvement. Individuals with ALG8-CDG commonly present with hypotonia, protein-losing enteropathy, and hepatic involvement. Here, we describe seven unreported individuals diagnosed with ALG8-CDG based on biochemical...

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Identifiers

PMID: 35716054
DOI: 10.1002/jimd.12527
PMCID: PMC9474684

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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