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-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics.

Human genetics - 1 Jun 1999

Yorifuji T, Muroi J, Uematsu A, Hiramatsu H, Momoi T

Abstract excerpt

Hyperinsulinism-hyperammonemia syndrome (HHS) is a recently identified genetic disorder characterized by hyperinsulinemic hypoglycemia with concomitant hyperammonemia. In patients with HHS, activating mutations in the glutamate dehydrogenase (GDH) gene have been identified. GDH is a key enzyme linking glutamate metabolism with the Krebs cycle and catalyzes the conversion of glutamate to alpha-ketoglutarate. The...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Diphosphate
Share to Ammonia
Share to Dose-Response Relationship, Drug

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glutamate Dehydrogenase

Share to Guanosine Triphosphate

Share to Hyperinsulinism

Share to Metabolism, Inborn Errors

Share to Syndrome

Source

Identifiers

PMID: 10453735
DOI: 10.1007/s004390050990

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics.PMID 10453735Read ↗

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

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations.Semantic proximity Read ↗

Glutamate Dehydrogenase as a Promising Target for Hyperinsulinism Hyperammonemia Syndrome Therapy.Semantic proximity Read ↗

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.Semantic proximity Read ↗

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

Regulation of glutamate metabolism and insulin secretion by glutamate dehydrogenase in hypoglycemic children.Semantic proximity Read ↗

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

Unregulated elevation of glutamate dehydrogenase activity induces glutamine-stimulated insulin secretion: identification and characterization of a GLUD1 gene mutation and insulin secretion studies with MIN6 cells overexpressing the mutant glutamate dehydrogenase.Semantic proximity Read ↗

Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia.Semantic proximity Read ↗

Mutations in human GLUD2 glutamate dehydrogenase affecting basal activity and regulation.Semantic proximity Read ↗

The odyssey of a young gene: structure-function studies in human glutamate dehydrogenases reveal evolutionary-acquired complex allosteric regulation mechanisms.Semantic proximity Read ↗

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.Semantic proximity Read ↗

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