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

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.

Nature genetics - 1 Nov 1996

Shi Z Z, Habib G M, Rhead W J, Gahl W A, He X, Sazer S, Lieberman M W

Abstract excerpt

5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) deficiency is an inherited autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. Th...

Read the complete abstract on PubMed

Topics

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

Share to Binding Sites
Share to Escherichia coli
Share to Genetic Complementation Test

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8896573
DOI: 10.1038/ng1196-361

Genes

GSS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8896573-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.PMID 8896573Read ↗

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 ↗

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

A case of severe glutathione synthetase deficiency with novel GSS mutations.Semantic proximity Read ↗

Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).Semantic proximity Read ↗

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

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

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

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

Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.Semantic proximity Read ↗

Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.Semantic proximity Read ↗

Patients with genetic defects in the gamma-glutamyl cycle.Semantic proximity Read ↗

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