HYPERINSULINEMIC HYPOGLYCEMIA DUE TO UNCOUPLING PROTEIN 2; UCP2

Question 1

What is  HYPERINSULINEMIC HYPOGLYCEMIA DUE TO UNCOUPLING PROTEIN 2; UCP2?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus durch UCP2-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601693

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial uncoupling protein 2

Disease	HYPERINSULINEMIC HYPOGLYCEMIA DUE TO UNCOUPLING PROTEIN 2; UCP2
OMIM	601693 OMIM = Online Mendelian Inheritance of Men
Orphanet	276556
Protein (UniProt)	Mitochondrial uncoupling protein 2
Gene locus	1p13.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Uncoupling protein-2
ICD	E16.1
Summary	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