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Article

Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2015

Tran Christel, Konstantopoulou Vassiliky, Mecjia Michelle, Perlman Kusiel, Mercimek-Mahmutoglu Saadet, Kronick Jonathan B

Abstract excerpt

BACKGROUND: Hyperinsulinism-hyperammonemia syndrome (HI/HA) is a rare autosomal dominant disorder presenting with hypoglycemia and hyperammonemia. It is caused by activating mutations in the GLUD1 gene. CASE REPORTS: Three patients from two different centers, a 14-month-old female, a 28-year-old female (mother of the first patient) from Toronto and an unrelated 2.5-year-old male from Vienna, presented with...

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Source

Identifiers

PMID: 25781533
DOI: 10.1515/jpem-2014-0441

Genes

GLUD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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