Article
Glutamate Dehydrogenase as a Promising Target for Hyperinsulinism Hyperammonemia Syndrome Therapy.
Current medicinal chemistry - 1 Jan 2022
Bian Yunfei, Hou Wei, Chen Xinrou, Fang Jinzhang, Xu Ning, Ruan Benfang Helen
Abstract excerpt
Hyperinsulinism-hyperammonemia syndrome (HHS) is a rare disease characterized by recurrent hypoglycemia and persistent elevation of plasma ammonia, and it can lead to severe epilepsy and permanent brain damage. It has been demonstrated that functional mutations of glutamate dehydrogenase (GDH), an enzyme in the mitochondrial matrix, are responsible for the HHS. Thus, GDH has become a promising target for the...
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