Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

European journal of endocrinology - 1 Nov 2009

Kapoor Ritika R, Flanagan Sarah E, Fulton Piers, Chakrapani Anupam, Chadefaux Bernadette, Ben-Omran Tawfeg, Banerjee Indraneel, Shield Julian P, Ellard Sian, Hussain Khalid

Abstract excerpt

BACKGROUND: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive hypoglycaemia. GDH is regulated by another intra-mitochondrial enzyme sirtuin 4 (SIRT4). Sirt4 knockout mice demonstrate activation of GDH with increased amino acid-stimulated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epilepsy
Share to Glutamate Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperammonemia

Share to Hyperinsulinism

Share to Mitochondrial Proteins

Share to Mutation, Missense

Share to Sirtuins

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 19690084
DOI: 10.1530/EJE-09-0615
PMCID: PMC2761810

Genes

GLUD1
SIRT4

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.PMID 19690084Read ↗

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

Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.Semantic proximity Read ↗

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.Semantic proximity Read ↗

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.Semantic proximity Read ↗

Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution.Semantic proximity Read ↗

Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.Semantic proximity Read ↗

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.Semantic proximity Read ↗

A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA).Semantic proximity Read ↗

Two unrelated Chinese patients with hyperinsulinism /hyperammonemia (HI/HA) syndrome due to mutations in glutamate dehydrogenase gene.Semantic proximity Read ↗

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.Semantic proximity Read ↗

Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.Semantic proximity Read ↗

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.