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Article

Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Aug 2010

de las Heras Javier, Garin Intza, de Nanclares Guiomar Perez, Aguayo Anibal, Rica Itxaso, Castaño Luis, Vela Amaia

Abstract excerpt

Hyperinsulinism-hyperammonemia (HI/HA) syndrome is the second most frequent cause of congenital hyperinsulinism (CHI) and it is characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia. We describe the familial case of a 2-year-old child and her 32-year-old mother who, having suffered from tonic-clonic seizures since infancy, had both been diagnosed with epilepsy and treated with sodium...

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Source

Identifiers

PMID: 21073125
DOI: 10.1515/jpem.2010.132

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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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