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Abstract #0719

GluCEST as an in vivo biomarker for monitoring abnormal glutamate dehydrogenase activity in Hyperinsulinism/Hyperammonemia syndrome at 7.0T

Ravi Prakash Reddy Nanga1, Elizabeth A Rosenfeld2, Deepa Thakuri1, Mark Elliott1, Ravinder Reddy1, and Diva D De Leon2
1Radiology, University of Pennsylvania, Philadelphia, PA, United States, 2Endocrinology and Diabetes, Children’s Hospital of Philadelphia, Philadelphia, PA, United States

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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