Hyperinsulinism/Hyperammonemia (HI/HA) syndrome is an orphan disease characterized by fasting and protein-induced hypoglycemia, hyperammonemia, and has high prevalence of epilepsy, developmental delays, and learning disabilities. Understanding the mechanism involved in brain phenotype remains limited. We have previously shown the application of glutamate weighted chemical exchange saturation transfer (GluCEST) imaging in small set of subjects to spatially map the glutamate levels of hippocampus. In this study we have expanded the human subject pool for studying the abnormal function of glutamate dehydrogenase (GDH) enzyme activity with HI/HA syndrome.
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