Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

ABSTRACT:

Background

Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A) have been reported in HH, the most common being ABCC8 and KCNJ11. We describe the genetic aetiology and phenotype of Iranian patients with HH.

Methods

Retrospective clinical, biochemical and genetic information was collected on 23 patients with biochemically confirmed HH. Mutation analysis was carried out for the ATP-sensitive potassium (K(ATP)) channel genes (ABCC8 and KCNJ11), GLUD1, GCK, HADH and HNF4A.

Results

78% of the patients were identified to have a genetic cause for HH. 48% of patients had mutatio

SUBMITTER: Senniappan S 

PROVIDER: S-EPMC4535259 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature