DeCure for Inherited glutathione synthetase deficiency
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for inherited glutathione synthetase deficiency — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleInherited glutathione synthetase deficiency maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
approvedGlutathioneApproved drug
Structures already discussed alongside inherited glutathione synthetase deficiency in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
GLUTATHIONE S-TRANSFERASE — Glutathione has a real, experimentally solved structure in complex with this target (PDB 13GS, 1.9 Å). This is the drug's own deposited structure, not a prediction, and confirms it is a structurally characterised molecule rather than an untested guess.
Loading structure…
helix sheet gshdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 13GS · 1.9 Å · ligand Glutathione (GSH). Experimental structure, not a prediction.
What the evidence adds up to
In a 2004 cell-culture study, adding S-acetylglutathione to the medium raised intracellular glutathione content in cultured fibroblasts taken from patients with glutathione synthetase deficiency. The authors stated this had implications for treatment, but no human subjects were treated, no doses were tested in patients, and no clinical outcomes were measured.
A 2021 case report described a newborn boy with the most severe phenotype of glutathione synthetase deficiency, diagnosed by clinical features and increased urinary 5-oxoproline levels measured by gas chromatography mass spectrometry. The report did not test any drug or intervention.
A 1994 family report described diagnosing the condition in a neonate and investigating the family. No treatment was tested or discussed.
No clinical trial has tested S-acetylglutathione or any other compound in patients with glutathione synthetase deficiency. What is missing is any human efficacy data, a funded clinical trial, and a formulation suitable for systemic use. Patient stratification by phenotype severity also remains unaddressed.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Inherited Metabolic Disease · 2004 · 15 citations
<i>S</i>‐Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency
AbstractGlutathione synthetase deficiency is an autosomal recessive inherited metabolic defect in the gamma-glutamyl cycle. Decreased intracellular glutathione levels are one of the characteristic biochemical features. In this study we show that addition of S-acetylglutathione to the medium raised intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency. This has implications for the treatment of patients with this inborn error of metabolism.
Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency
AbstractGlutathione synthetase (GSS) deficiency is a rare disorder, occurring with a frequency of less than 1 in 100,000 individuals worldwide. The clinical presentation may vary from mild to severe, and manifestations include hemolytic anemia, hyperbilirubinemia, metabolic acidosis, neurological problems, and sepsis. Herein, we present a case of a newborn boy with the most severe phenotype of GSS deficiency, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via gas chromatography mass spectrometry (GCMS) testing.
Journal of the Royal Society of Medicine · 1994 · 2 citations · open access
Glutathione Synthetase Deficiency: A Family Report
AbstractGlutathione synthetase deficiency is a rare inborn error of metabolism. Low levels of and at times unstable molecules of glutathione synthetase leads to glutathione deficiency affecting various systems of the body. The inheritance is thought to be of autosomal recessive variety. We diagnosed the condition in a neonate and proceeded to investigate the family. The results are discussed below.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
