gamma-glutamyl transpeptidase deficiency
Findings
No curated finding names gamma-glutamyl transpeptidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.
Definition from the Mondo Disease Ontology (MONDO:0009285), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- GlutathionuriaHPOHP:0034586
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Reduced gamma-glutamyltransferase levelHPOHP:0034445
- 2 of 2 reported patients
- Reduced tissue gamma-glutamyltransferase activityHPOHP:6000578
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Urinary incontinenceHPOHP:0000020
- 2 of 2 reported patients
Show the remaining 9
- DysdiadochokinesisHPOHP:0002075
- 1 of 2 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 1 of 2 reported patients
- Gray matter heterotopiaHPOHP:0002282
- 1 of 2 reported patients
- HypotelorismHPOHP:0000601
- 1 of 2 reported patients
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GGT1HGNC:4250
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: gamma-glutamyl transpeptidase deficiency
- Also called
- glutathioninuriaglutathionuriainborn error of glutathione hydrolase activityinborn glutathione hydrolase activity disorderrare inborn error of glutathione hydrolase activity