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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

Fig. 2

Mechanisms of GHD-HI [30]. In β-cells, oxidation of glucose increases the ATP/ADP ratio, which inhibits ATP-dependent potassium channels, triggering the opening of voltage-gated calcium channels and the inward flow of calcium to allow insulin to be released. Amino acids enter this triggered pathway through the oxidation of glutamate by glutamate dehydrogenase (GDH) under the regulation of GTP and ADP and leucine. In the liver, ammonia can be produced from glutamate via GDH; glutamate produces N-acetylglutamate to manage the detoxification of ammonia to urea as well. In the kidney, GDH catalyses the conversion of glutamate into alpha-ketoglutarate and ammonia; this process is thought to be responsible for the hyperammonemia in HI/HA syndrome. GDH glutamate dehydrogenase, GK glucokinase, SUR sulfonylurea receptor; KATP channel ATP-dependent potassium channel; Kir potassium inward rectifying pore; CPS carbamoyl-phosphate synthetase

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