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Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.

Human molecular genetics - 15 Sept 2017

Grimaldi Mariagrazia, Karaca Melis, Latini Livia, Brioudes Estelle, Schalch Thomas, Maechler Pierre

Abstract excerpt

Congenital hyperinsulinism/hyperammonemia (HI/HA) syndrome gives rise to unregulated protein-induced insulin secretion from pancreatic beta-cells, fasting hypoglycemia and elevated plasma ammonia levels. Mutations associated with HI/HA were identified in the Glud1 gene, encoding for glutamate dehydrogenase (GDH). We aimed at identifying the molecular causes of dysregulation in insulin secretion and ammonia...

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PMID: 28911206
DOI: 10.1093/hmg/ddx213

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INS

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