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Article

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.

The Journal of clinical endocrinology and metabolism - 1 Mar 2011

Flanagan Sarah E, Patch Ann-Marie, Locke Jonathan M, Akcay Teoman, Simsek Enver, Alaei Mohammadreza, Yekta Zeinab, Desai Meena, Kapoor Ritika R, Hussain Khalid, Ellard Sian

Abstract excerpt

CONTEXT AND OBJECTIVE: Recessive mutations in the hydroxyacyl-CoA dehydrogenase (HADH) gene encoding the enzyme 3-hydroxyacyl-CoA dehydrogenase are a rare cause of diazoxide-responsive hyperinsulinemic hypoglycemia (HH) with just five probands reported to date. HADH deficiency in the first three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21252247
DOI: 10.1210/jc.2010-1906
PMCID: PMC3100671

Genes

HADH
GLUD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21252247-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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