hyperinsulinaemic hypoglycaemia type 6
hyperinsulinaemic hypoglycaemia type 6
An inherited condition (OMIM:606762) characterised by elevated oxidation of glutamate to alpha-ketoglutarate, which stimulates insulin secretion in the pancreatic beta cells and impairs detoxification of ammonium in the liver.Molecular pathology
Missense mutations of GLUD1, which encodes glutamate dehydrogenase 1, cause hyperinsulinaemic hypoglycaemia type 6.