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

Patients with genetic defects in the gamma-glutamyl cycle.

Chemico-biological interactions - 24 Apr 1998

Ristoff E, Larsson A

Abstract excerpt

In the gamma-glutamyl cycle, hereditary defects have been described in four of the six enzymes namely: gamma-GC synthetase; GSH synthetase; gamma-glutamyl transpeptidase and 5-oxoprolinase. Mutants are still to be found in gamma-glutamyl cyclotransferase and in the dipeptidase. Deficiency of GSH synthatase or gamma-GC synthetases results in low levels of GSH. In gamma-GC synthetase deficiency hemolytic anemia is...

Read the complete abstract on PubMed

Topics

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

Share to Erythrocytes
Share to gamma-Glutamyltransferase
Share to Glutathione

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Metabolism, Inborn Errors

Share to Mutation

Source

Identifiers

PMID: 9679548
DOI: 10.1016/s0009-2797(97)00155-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Patients with genetic defects in the gamma-glutamyl cycle.PMID 9679548Read ↗

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.Semantic proximity Read ↗

Glutathione synthetase deficiency.Semantic proximity Read ↗

5-Oxoprolinase deficiency: report of the first human OPLAH mutation.Semantic proximity Read ↗

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.Semantic proximity Read ↗

Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.Semantic proximity Read ↗

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.Semantic proximity Read ↗

Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.Semantic proximity Read ↗

Ggct (γ-glutamyl cyclotransferase) plays an important role in erythrocyte antioxidant defense and red blood cell survival.Semantic proximity Read ↗

Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.Semantic proximity Read ↗

Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.Semantic proximity Read ↗

Diagnosis of glutathione synthetase deficiency in newborn screening.Semantic proximity Read ↗

G6PD deficiency.Semantic proximity Read ↗

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