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Article

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.

Developmental medicine and child neurology - 1 Dec 2008

Bahi-Buisson Nadia, Roze Emmanuel, Dionisi Carlo, Escande Fabienne, Valayannopoulos Vassili, Feillet François, Heinrichs Claudine, Chadefaux-Vekemans Bernadette, Dan Bernard, de Lonlay Pascale

Abstract excerpt

Hyperinsulinism-hyperammonaemia syndrome (HHS) is a rare cause of congenital hyperinsulinism, due to missense mutations in the GLUD1 gene, resulting in glutamate dehydrogenase (GDH) overactivity. The aim of this study was to document the spectrum of neurological disturbances associated with HHS and to identify possible phenotype-genotype correlations. We retrospectively analyzed the neurological outcomes of 22...

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Share to Epilepsy, Absence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19046187
DOI: 10.1111/j.1469-8749.2008.03114.x

Genes

GLUD1

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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