DeCure for Hemolytic anemia due to glucophosphate isomerase deficiency
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for hemolytic anemia due to glucophosphate isomerase 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 moduleHemolytic anemia due to glucophosphate isomerase 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
No approved-drug candidate for hemolytic anemia due to glucophosphate isomerase deficiency is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
glucose-6-phosphate isomerase (GPI) — GPI is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet maedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9FCW · 1.4 Å · ligand MALEIC ACID (MAE). Experimental structure, not a prediction.
What the evidence adds up to
A 1975 Dutch case described a mentally retarded girl with severe hemolytic anaemia due to glucosephosphate isomerase deficiency. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. A glutathione instability of unknown origin was also found in her erythrocytes. No treatment or outcome data beyond the enzyme defect and associated findings were reported for this single patient.
A 2020 review article discussed pyruvate kinase deficiency, another glycolytic enzyme defect that causes hereditary nonspherocytic hemolytic anaemia. The review summarised known mutations of the pyruvate kinase gene and associations between genetic types, impaired enzyme function, and severity of haemolysis. This paper did not address glucosephosphate isomerase deficiency and offered no therapeutic data for either condition.
A 2024 case series from three unrelated Tunisian families described triosephosphate isomerase deficiency, which the authors called the most severe glycolytic enzyme defect, causing hemolytic anaemia, neurodegeneration, and recurrent bacterial infections. All reported cases had severe hemolytic anaemia and carried the homozygous Glu104Asp mutation. No treatment, survival, or response data were provided for these patients.
No abstracts in this set reported any drug tested for glucosephosphate isomerase deficiency, pyruvate kinase deficiency, or triosephosphate isomerase deficiency. What is missing is any clinical trial, any drug repurposing attempt, any patient stratification beyond single-gene mutations, and any funding directed at therapy development for these rare glycolytic enzyme disorders.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Acta Paediatrica · 1975 · 13 citations
GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY IN A DUTCH FAMILY
AbstractABSTRACT: Van Biervliet, J. P. G. M. (University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands). Glucosephosphate isomerase deficiency in a Dutch family. Acta Paediatr Scand, 64: 868, 1975.–A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability of unknown origin was found in the erythrocytes of the propositus.
Pediatric Hematology/Oncology and Immunopathology · 2020 · 2 citations · open access
Pyruvat kinase deficiency and nonspherocytic hemolytic anemia
AbstractThe review is devoted to one of the main regulatory enzymes of glycolysis in erythrocytes – pyruvate kinase, a deficiency of which is often the cause of hereditary nonspherocytic hemolytic anemia. The article presents data on the structure and function of pyruvate kinase and the currently known mutations of coding this enzyme gene. Authors analyzed associations between various genetic types and impaired enzyme function and the severity of the hemoly sis.
Greater South Information System · 2024 · 0 citations · open access
Triosephosphate isomerase deficiency in a Tunisian case series
AbstractTriosephosphate isomerase deficiency (TPID) is the most severe glycolytic enzyme defect associated with a progressive neurologic dysfunction. It typically causes hemolytic anemia, neurodegeneration, and recurrent bacterial infections. TPID is caused by a homozygous or a compound heterozygous mutation in the TPID gene. The most frequent variant is Glu104Asp. We report a case series from three unrelated Tunisian families affected by TPID caused by a homozygous Glu104Asp mutation. These reported cases had severe hemolytic anemia. Informed consent was obtained from patients' parents.
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.
