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

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Review highlights UGDH gene mutations impacting glycosylation, causing developmental disease and epileptic encephalopathy.

Mutations in the UGDH gene are linked to severe developmental diseases and epileptic encephalopathy.
Biallelic variants in UGDH can lead to congenital defects like cardiac and brain developments.
The unique UGDH enzyme plays a critical role in the synthesis of glycosylation products crucial for proper cellular function.
Research discusses the clinical implications and molecular effects of UGDH mutations on congenital disorders.

Harwood et al. (2025) studied this question.

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