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Summary
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 HHF5
HHF5
609968
OMIM = Online Medalian Inheritance of Men
263458
19p13.2
rare
autosomal dominant
symptoms
hyperinsulinism
hyperpigmentation
hypoglycemia
hypoketotic hypoglycemia
onset, infancy
onset, neonatal
seizures
laboratory finding
Free fatty acids decreasedserum
D-Glucose decreasedblood
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