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Summary
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO UNCOUPLING PROTEIN 2 UCP2
601693
OMIM = Online Medalian Inheritance of Men
276556
1p13.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
very rare
autosomal dominant
The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2) [Ferrara CT et al. 2017]
symptoms
hyperinsulinism
hypoglycemia
onset, infancy
laboratory finding
Free fatty acids decreasedserumadolescence, adult
D-Glucose decreased (excercise induced)plasmaadolescence, adult
Ketone bodies decreased (hypoglycemia)urine, plasma
Literature
Schuck PF,et al.Phenylketonuria Pathophysiology: on the Role of Metabolic AlterationsAging Dis65390-3992015
Galron D,et al.Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patientJ Inherit Metab Dis272267-2732004
Kimura M,Yamaguchi SCarnitine acylcarnitine translocase deficiencyNihon Rinsho Suppl40714-7162002