Congenital hyperinsulinism due to mutations in HNF4A and HADH

Ritika R Kapoor; Amanda Heslegrave; Khalid Hussain

doi:10.1007/s11154-010-9148-y

Congenital hyperinsulinism due to mutations in HNF4A and HADH

Rev Endocr Metab Disord. 2010 Sep;11(3):185-91. doi: 10.1007/s11154-010-9148-y.

Authors

Ritika R Kapoor¹, Amanda Heslegrave, Khalid Hussain

Affiliation

¹ Clinical and Molecular Genetics Unit, The Developmental Endocrinology Research Group, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

PMID: 20931292
DOI: 10.1007/s11154-010-9148-y

Abstract

Mutations in the HADH and HNF4A genes are rare causes of diazoxide responsive congenital hyperinsulinism (CHI). This chapter details the phenotype known to be associated with mutations in these genes. Additionally, the authors give a brief overview of the role of these genes in glucose physiology and the possible mechanisms of CHI in patients with mutations in these genes.

Publication types

Review

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / genetics*
3-Hydroxyacyl CoA Dehydrogenases / metabolism
3-Hydroxyacyl CoA Dehydrogenases / physiology
Congenital Hyperinsulinism / genetics*
Congenital Hyperinsulinism / metabolism
Hepatocyte Nuclear Factor 4 / genetics*
Hepatocyte Nuclear Factor 4 / metabolism
Hepatocyte Nuclear Factor 4 / physiology
Humans
Infant, Newborn
Insulin-Secreting Cells / metabolism
Models, Biological
Mutation* / physiology

Substances

HNF4A protein, human
Hepatocyte Nuclear Factor 4
3-Hydroxyacyl CoA Dehydrogenases