Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants | Neurology Genetics
Background and ObjectivesHexokinase 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) …