glutathione synthetase deficiency without 5-oxoprolinuria
MONDO:0009284Mondo
Findings
No curated finding names glutathione synthetase deficiency without 5-oxoprolinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Hemolytic anemiaHPOHP:0001878
- 4 of 4 reported patients
- Increased level of L-pyroglutamic acid in urineHPOHP:0410132
- 4 of 4 reported patients
- Reduced glutathione synthetase levelHPOHP:0003343
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 4 reported patients
- Metabolic acidosisHPOHP:0001942
- 2 of 4 reported patients
Where it sits
Other names
6 names
Resolves to: glutathione synthetase deficiency without 5-oxoprolinuria
- Also called
- anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficientCNSHA6glutathione synthetase deficiency of erythrocytes, hemolytic anemia due toGSSDEhemolytic anaemia due to glutathione synthetase deficiencyhemolytic anemia due to glutathione synthetase deficiency