HYPERINSULINEMIC HYPOGLYCEMIA DUE TO UNCOUPLING PROTEIN 2; UCP2 | |
601693
OMIM = Online Mendelian Inheritance of Men | |
276556 | |
Mitochondrial uncoupling protein 2 | |
1p13.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: |
|
E16.1 | |
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] | |
Laboratory findings | D-Glucose normal/dec (plasma) Free fatty acids dec (serum) Ketone bodies (urine) normal/dec (urine) |
Symptoms | hyperinsulinism hypoglycemia hypoketotic hypoglycemia onset, infancy |