The study of mechanism and approach to treatment for the hyper-ammonemia in the glutamate dehydrogenase abnormality

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Hyperinsulinism hyperammonemia causes dysregulation of GDH activity due to have severe insensitivity for GTP inhibition, and mediate the unregulated insulin secretion. We made a transgenic mouse for elucidation of mechanism of hyperammonemia and development of a therapy. Metabolom analysis in liver, heart, kidney, and brain indicated the enhancement of fatty acid metabolism and decreased synthesis of α-oxoglutarate in liver. As onset mechanism of hyperammonemia, there is not decrease of N-acetylglutamate, and carbamoyl phosphate synthetase activity may not decrease. The new Japanese patients have been diagnosed with GDH analysis.