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Article

[Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Nov 2004

Montero Luis C, Pozo Román J, Muñoz Calvo María T, Martos Moreno G, Donoso María A, Rubio Cabezas O, Argente Oliver J

Abstract excerpt

Hyperinsulinism-hyperammonemia syndrome is characterized by recurrent and symptomatic hypoglycemias in childhood, secondary to hyperinsulinism associated with mild and asymptomatic hyperammonemia. This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase gene (10q23.3). These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of...

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Identifiers

PMID: 15530324
DOI: 10.1016/s1695-4033(04)78419-2

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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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