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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
seizures
laboratory finding
Free fatty acids decreasedserum
Glucose decreasedblood
Ketone bodies decreased during hypoglycemiaurine, plasma
Literature
Gessler DJ,Gao GGene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.Methods Mol Biol13820429-4652016