Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

ABSTRACT:

Context

The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2), a mitochondrial inner membrane carrier that modulates oxidation of glucose vs amino acids.

Objective

To evaluate the frequency of UCP2 mutations in children with HI and phenotypic features of this form of HI.

Design

We examined 211 children with diazoxide-responsive HI seen at The Children's Hospital of Philadelphia (CHOP) between 1997 and October 2016.

Setting

CHOP Clinical and Translational Research Center.

Results

Of 211 cases of diazoxide-responsive HI, we identified 5 unrelated children with UCP2 mutations (5 of 211; 2.4%). All 5 were diagnosed with HI before 6 months of age; diazoxide treatment

SUBMITTER: Ferrara CT 

PROVIDER: S-EPMC5460685 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature