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Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Red blood cell destruction (hemolytic anemia) |
Brain and nerves | 1 | Intellectual disability |
Metabolism | 1 | Metabolic acidosis |
GSS encodes glutathione synthetase (474 aa). Catalyzes the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner. Highest expression in Cells Cultured fibroblasts (80.5 TPM) and Prostate (71.6 TPM).
Glutathione synthetase deficiency without 5-oxoprolinuria is associated with mutations in the GSS gene on chromosome 20.
The GSS protein participates in Defective GSS causes GSS deficiency, GSS mutants:GSS mutants:Mg2+:Mg2+, and Defective GSS does not synthesize GSH pathways.
GSS is classified as a druggable target (Druggable Genome category) with score 26.1.
Genetic testing for GSS is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 2 common features.
No clinical trials have been registered for glutathione synthetase deficiency without 5-oxoprolinuria.
7 publications have been identified in PubMed for glutathione synthetase deficiency without 5-oxoprolinuria. Research spans Case Report / Case Series (86%) and Basic Science / Preclinical (14%).
Demirsu A (2026). [PMID: 41204648](https://pubmed.ncbi.nlm.nih.gov/41204648/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]
Nemoto H (2026). [PMID: 41469313](https://pubmed.ncbi.nlm.nih.gov/41469313/). *Pediatrics and neonatology*. [Case Report / Case Series]
Suresh Kumar Bindu BN (2026). [PMID: 41500709](https://pubmed.ncbi.nlm.nih.gov/41500709/). *BMJ case reports*. [Case Report / Case Series]
Locham J (2025). [PMID: 40697680](https://pubmed.ncbi.nlm.nih.gov/40697680/). *Medical journal, Armed Forces India*. [Case Report / Case Series]
Kalinina E (2024). [PMID: 39125992](https://pubmed.ncbi.nlm.nih.gov/39125992/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Jury J (2024). [PMID: 39221916](https://pubmed.ncbi.nlm.nih.gov/39221916/). *Clinical genetics*. [Case Report / Case Series]
Kasapkara ÇS (2024). [PMID: 39129838](https://pubmed.ncbi.nlm.nih.gov/39129838/). *Molecular syndromology*. [Case Report / Case Series]