Hexokinase 1 (encoded by HK1) catalyzes the first step of glycolysis, the adenosine triphosphate–dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic HK1 variants causing a neurodevelopmental disorder (NDD) have been reported in 12 individuals.
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Wortmann et al. (2024) studied this question.
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