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gamma-glutamyl transpeptidase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

gamma-glutamyl transpeptidase deficiency

MONDO:0009285

Also known as:glutathioninuriaglutathionuriainborn error of glutathione hydrolase activity

Overview

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GeneticsAutosomal recessive · GGT1 (chr 22)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Global developmental delay, Urinary incontinence, Reduced gamma-glutamyltransferase level, and Reduced tissue gamma-glutamyltransferase activity and others; and common findings: Action tremor, Asthma, Agenesis of corpus callosum, and Dysdiadochokinesis and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Action tremor, Global developmental delay, Intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GGT1 encodes gamma-glutamyltransferase 1 (569 aa). Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates (such as maresin conjugate (13R)-S-glutathionyl-(14S)-hydroxy-(4Z,7Z,9E,11E,16Z,19Z)-docosahexaenoate, MCTR1) and other gamma-glutamyl compounds (such as leukotriene C4, LTC4). Highest expression in Kidney Cortex (39.9 TPM) and Liver (19.8 TPM).

Gamma-glutamyl transpeptidase deficiency is associated with mutations in the GGT1 gene on chromosome 22.

The GGT1 protein participates in GGT1(1-380) R107Q, GGT1(1-380) R107H, and GGT1(381-569) D423A pathways.

GGT1 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and Protease categories) with score 3.9.

Diagnosis

Genetic testing for GGT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for gamma-glutamyl transpeptidase deficiency.

3 publications have been identified in PubMed for gamma-glutamyl transpeptidase deficiency. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Wang F (2025). [PMID: 41316810](https://pubmed.ncbi.nlm.nih.gov/41316810/). *Cancer Med*. [Review / Meta-Analysis]
Zhang T (2024). [PMID: 38847236](https://pubmed.ncbi.nlm.nih.gov/38847236/). *Int J Oncol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:231950

Orphanet

European rare disease database

Orphanet:33573

GARD

Genetic and Rare Diseases Info Center

GARD:10099

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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gamma-glutamyl transpeptidase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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