inherited glutathione synthetase deficiency
Findings
No curated finding names inherited glutathione synthetase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
Definition from the Mondo Disease Ontology (MONDO:0017909), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Abnormality of immune system physiologyHPOHP:0010978
- Very frequent (80% to 99% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very frequent (80% to 99% of cases)
- Chronic metabolic acidosisHPOHP:0001996
- Very frequent (80% to 99% of cases)
- Hemolytic anemiaHPOHP:0001878
- Very frequent (80% to 99% of cases)
- Increased level of L-pyroglutamic acid in urineHPOHP:0410132
- Very frequent (80% to 99% of cases)
- Reduced erythrocyte glutathione concentrationHPOHP:0034738
- Very frequent (80% to 99% of cases)
- Reduced glutathione synthetase levelHPOHP:0003343
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
Show the remaining 2
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- SpasticityHPOHP:0001257
- 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.
- GSSHGNC:4624
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: inherited glutathione synthetase deficiency
- Also called
- 5-oxoprolinuriaglutathione synthetase deficiencyGSSDinborn error of glutathione synthase activityinborn glutathione synthase activity disorderpyroglutamic aciduriapyroglutamicaciduriarare inborn error of glutathione synthase activity