ArticleEuropean journal of human genetics : EJHG2018
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 21 citations in OpenAlex.
- The multiple roles of Ggt1-Cre in the generation of transgenic mice.Cellular & molecular biology letters · 2026Article
- A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population.Scientific reports · 2025Article
- Glutathione‑degrading enzymes in the complex landscape of tumors (Review).International journal of oncology · 2024Review
- Regulation of antioxidants in cancer.Molecular cell · 2024Review
- Review
- EDIR: exome database of interspersed repeats.Bioinformatics (Oxford, England) · 2023Article
- Microbiological transglutaminase: Biotechnological application in the food industry.Open life sciences · 2023Review
- Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.EMBO molecular medicine · 2021Article
- A Systematic Review of Serum γ-Glutamyltransferase as a Prognostic Biomarker in Patients with Genitourinary Cancer.Antioxidants (Basel, Switzerland) · 2021Review
- Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations.Hepatology (Baltimore, Md.) · 2020Article
- A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.Scientific reports · 2019Article
- β-Mannosidosis caused by a novel homozygous intragenic inverted duplication inCold Spring Harbor molecular case studies · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
γ-Glutamyl transpeptidase deficiency (glutathionuria, OMIM 231950) is a rare disease, with only six patients reported in the literature, although this condition has probably been underdiagnosed due the difficulty to routinely analyze glutathione in clinical samples and to the fact that no genetic defect has been coupled to the disease so far. We report two siblings with mild psychomotor developmental delay and mild neurological symptoms, who presented a markedly increased excretion of glutathione in urine and a very low γ-glutamyl transpeptidase activity in serum. Whole-genome sequencing revealed the presence of a 16.9 kb homozygous deletion in GGT1, one of the genes encoding enzymes with γ-glutamyl transpeptidase activity in the human genome. Close analysis revealed the presence of a 13 bp insertion at the deletion junction. This is the first report of a genetic variant as the cause of glutathionuria. In addition, genetic characterization of the patients' parents and a healthy sibling has provided direct genetic evidence regarding the autosomal recessive nature of this disease.
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