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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 HHF5
HHF5
609968
OMIM = Online Medalian Inheritance of Men
263458
19p13.2
rare
autosomal dominant
mutation in the insulin receptor gene
symptoms
hyperinsulinism
hyperpigmentation
hypoglycemia
hypoketotic hypoglycemia
onset, infancy
onset, neonatal
seizures
laboratory finding
Free fatty acids decreasedserum
D-Glucose mmol/lplasma
Ketone bodies decreased during hypoglycemiaurine, plasma
Literature
Mueller T,et al.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CGut6581306-13132016
Gessler DJ,Gao GGene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.Methods Mol Biol13820429-4652016