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Article

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

The Turkish journal of pediatrics - 1 Jan 2016

Aka Sibel, Alanay Yasemin, Boodhansingh Kara E, Stanley Charles A, Semiz Serap

Abstract excerpt

Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorder presented with recurrent hypoglycemia and elevated serum ammonia, which may lead to development delays, permanent neurologic damages, if it remains underdiagnosed. It is caused by activating mutations in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH). HI/HA syndrome is considered the second most common...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28621098
DOI: 10.24953/turkjped.2016.05.014

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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