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Article

Recent insights into the implications of UGDH mutations for human developmental disease.

Biochemical Society transactions - 29 Aug 2025

Harwood Hali, Zimmer Brenna M, Utz Asher R, Barycki Joseph J, Simpson Melanie A

Abstract excerpt

Congenital disorders of glycosylation are a significant underlying cause of developmental and epileptic encephalopathy (DEE). A subset of these DEE cases results from biallelic variants in the unique, essential gene encoding UDP-glucose dehydrogenase (UGDH). The UGDH enzyme catalyzes two successive NAD+- dependent oxidation reactions to convert the C6 hydroxyl of UDP-glucose to a carboxylate, generating the...

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Identifiers

PMID: 40879729
DOI: 10.1042/BST20253083
PMCID: PMC12493151

Genes

UGDH
C6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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