hyperinsulinaemic hypoglycaemia type 6

(redirected from hyperinsulinism-hyperammonaemia syndrome)

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.
References in periodicals archive ?
Fulton et al., "Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations," European Journal of Endocrinology, vol.
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol 2008;50:945-949.