The molecular determinants of synaptic current kinetics at zebrafish neuromuscular junctions

This study examined the fasting response of Native Alaskan children homozygous for the CPT1A c.1436C→T variant, which reduces hepatic fatty acid oxidation. Five children aged 3–5 completed an 18‑hour supervised fast with measurements of glucose, ketones, and free fatty acids. Two developed hypoketotic hypoglycemia requiring intervention. Compared with published controls, affected children showed markedly reduced ketone production and elevated FFA/KB ratios, indicating impaired hepatic ketogenesis despite normal fatty acid mobilization. Findings show that the c.1436C→T variant decreases fasting tolerance and increases risk for hypoketotic hypoglycemia, demonstrating it is not a benign genetic variant.