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

高胰岛素血症高氨血症由于对GTP抑制严重不敏感，导致GDH活性失调，介导胰岛素分泌失调。为了阐明高氨血症的机制和开发治疗方法，我们建立了转基因小鼠。肝脏、心脏、肾脏和大脑的代谢分析表明，脂肪酸代谢增强，α-氧戊二酸酯的合成减少。作为高氨血症的发病机制，n -乙酰谷氨酸不降低，磷酸氨甲酰合成酶活性不降低。新的日本患者已被诊断为GDH分析。

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.