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Glutamate dehydrogenase, hyperammonemia, and HI/HA syndrome: Study on the contribution by the liver

Defense date2020-09-03
Abstract

Glutamate dehydrogenase (GDH) catalyses the reversible oxidative deamination of glutamate to α-ketoglutarate. This mitochondrial enzyme is regulated by negative cooperativity and a wide array of allosteric effectors. Among them, most potent inhibitor GTP and most potent activator ADP. The importance of GDH regulation has been highlighted by the discovery of the hyperinsulinism-hyperammonaemia (HI/HA) syndrome. It is caused by dominant activating mutations that abrogate GTP inhibition, resulting in dangerously high serum levels of insulin and ammonium.

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Keywords
  • GDH
  • Glutamate dehydrogenase
  • Α-ketoglutarate
  • HI/HA
  • Hyperinsulinism-hyperammonaemia
  • Hyperinsulinism
  • Hyperammonaemia
Citation (ISO format)
LUCZKOWSKA, Karolina. Glutamate dehydrogenase, hyperammonemia, and HI/HA syndrome: Study on the contribution by the liver. 2020. doi: 10.13097/archive-ouverte/unige:145909
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Creation12/03/2020 8:40:00 PM
First validation12/03/2020 8:40:00 PM
Update time03/15/2023 11:40:09 PM
Status update03/15/2023 11:40:08 PM
Last indexation01/29/2024 10:26:39 PM
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