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

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). […] UGDH polymorphisms are not frequently observed as they are largely deleterious. However, a number of UGDH variants have been reported and characterized as causative agents of congenital defects in cardiac valve and brain development, and most recently of dystroglycanopathy. The effects of these mutations, clinically and at the molecular level, are summarized and discussed in this review.