gamma-glutamylcysteine synthetase deficiency
Findings
No curated finding names gamma-glutamylcysteine synthetase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
Definition from the Mondo Disease Ontology (MONDO:0009259), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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
- 1 of 1 reported patient
- Obligate (100% of cases)
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- Reduced erythrocyte gamma-glutamyl cysteine synthetase activityHPOHP:6000132
- 3 of 3 reported patients
- ReticulocytosisHPOHP:0001923
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- 0 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 7
- HepatosplenomegalyHPOHP:0001433
- Occasional (5% to 29% of cases)
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- JaundiceHPOHP:0000952
- Occasional (5% to 29% of cases)
- PsychosisHPOHP:0000709
- Occasional (5% to 29% of cases)
- PolyneuropathyHPOHP:0001271
- 0 of 1 reported patient
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.
- GCLCHGNC:4311
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: gamma-glutamylcysteine synthetase deficiency
- Also called
- anemia, congenital, nonspherocytic hemolytic, 7gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due togamma-glutamylcysteine synthetase deficiency, hemolytic anemia due toglutamate-cysteine ligase deficiencyhemolytic anaemia due to gamma-glutamylcysteine synthetase deficiencyinborn error of glutamate-cysteine ligase activityinborn glutamate-cysteine ligase activity disorderrare inborn error of glutamate-cysteine ligase activity