Article
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.
The Journal of clinical endocrinology and metabolism - 1 Mar 2017
Ferrara Christine T, Boodhansingh Kara E, Paradies Eleonora, Fiermonte Giuseppe, Steinkrauss Linda J, Topor Lisa Swartz, Quintos Jose Bernardo, Ganguly Arupa, De Leon Diva D, Palmieri Ferdinando, Stanley Charles A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.