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Article

Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Reviews in endocrine & metabolic disorders - 1 Sept 2010

Kapoor Ritika R, Heslegrave Amanda, Hussain Khalid

Abstract excerpt

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.

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Share to 3-Hydroxyacyl CoA Dehydrogenases
Share to Congenital Hyperinsulinism
Share to Hepatocyte Nuclear Factor 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperglycemia and glycemic control in critically ill and hospitalized patients

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Share to Insulin-Secreting Cells

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Source

Identifiers

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

Genes

HADH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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