DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for pentosuria — 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 modulePentosuria 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 pentosuria 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
dicarbonyl and L-xylulose reductase (DCXR) — DCXR 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 napdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3D3W · 1.87 Å · ligand NADP NICOTINAMIDE-ADENINE-DINUCLEOTIDE PHOSPHATE (NAP). Experimental structure, not a prediction.
What the evidence adds up to
Pentosuria is an autosomal-recessive condition caused by deficiency of the enzyme L-xylulose reductase, encoded by the DCXR gene. Two loss-of-function mutations were identified in the DCXR gene: c.583ΔC and c.52(+1)G > A. Among nine unrelated living pentosuric subjects, six were homozygous for c.583ΔC, one was homozygous for c.52(+1)G > A, and two were compound heterozygous for both mutant alleles. L-xylulose reductase was not detectable in protein lysates from subjects' cells, and high levels of xylulose were detected in their sera. The combined frequency of the two mutant DCXR alleles in 1,067 Ashkenazi Jewish controls was 0.0173, suggesting a pentosuria frequency of approximately one in 3,300 in this population. Haplotype analysis indicated that the c.52(+1)G > A mutation arose more recently than the c.583ΔC mutation.
The condition is completely clinically benign. In the early and mid-20th century it attracted attention because it was often confused with diabetes mellitus and inappropriately treated with insulin. One 1961 report from a life insurance company's medical laboratory found 22 pentosuric reactions among 895,000 insurance applicants, or 1:41,000, which the authors noted agreed with earlier reported frequencies of 1:20,000 to 1:50,000. The sugar excreted in the urine is L-xylulose. A 1923 case report described two siblings, a brother and sister, with chronic pentosuria; the sister was Jewish and aged 30, and had been told twelve years earlier that small amounts of sugar were present in her urine.
No treatment is needed for pentosuria because it is benign. The condition affects almost exclusively individuals of Ashkenazi Jewish ancestry. What remains missing is any need for further clinical investigation or trial design, given the condition's benign nature; the genetic basis has been solved, and no intervention is warranted.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Proceedings of the National Academy of Sciences · 2011 · 17 citations · open access
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria
AbstractPentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. The condition is autosomal-recessive and completely clinically benign, but in the early and mid-20th century attracted attention because it was often confused with diabetes mellitus and inappropriately treated with insulin. Persons with pentosuria were identified from records of Margaret Lasker, who studied the condition in the 1930s to 1960s. In the DCXR gene encoding L-xylulose reductase, we identified two mutations, DCXR c.583ΔC and DCXR c.52(+1)G > A, each predicted to lead to loss of enzyme activity. Of nine unrelated living pentosuric subjects, six were homozygous for DCXR c.583ΔC, one was homozygous for DCXR c.52(+1)G > A, and two were compound heterozygous for the two mutant alleles. L-xylulose reductase was not detectable in protein lysates from subjects' cells and high levels of xylulose were detected in their sera, confirming the relationship between the DCXR genotypes and the pentosuric phenotype. The combined frequency of the two mutant DCXR alleles in 1,067 Ashkenazi Jewish controls was 0.0173, suggesting a pentosuria frequency of approximately one in 3,300 in this population. Haplotype analysis indicated that the DCXR c.52(+1)G > A mutation arose more recently than the DCXR c.583ΔC mutation.
New England Journal of Medicine · 1961 · 3 citations
Incidence of Pentosuria
AbstractIN ten years the John Hancock Mutual Life Insurance Company's Home Office medical laboratory discovered 22 pentosuric reactions among 895,000 insurance applicants, or 1:41,000. This agrees sufficiently with the 1:20,000 to 1:30,000 reported by Barach,1 and the 1:50,000 by Blatherwick.2 Its limitation to the Hebrew race could not be checked. Several applicants gave their race, quite properly, as: white, American. However, all the names sounded Hebrew.The sugar in the urine of a person with pentosuria is L-xylulose, as distinguished from other five-carbon-atom sugars. The condition is considered benign.3 If otherwise acceptable persons with pentosuria may obtain insurance from the . . .
REPORT OF A CASE OF ESSENTIAL PENTOSURIA IN BROTHER AND SISTER
AbstractIt will be recalled that two types of pentosuria1exist: (1) the alimentary type, characterized by the presence of optically active xylose or arabinose in the urine, which follows the ingestion of large amounts of pentose-containing foods2such as apples, cherries, plums, beets and leguminous vegetables, and (2) the idiopathic, or essential, pentosuria. Salkowski and Jastrowitz3first described a case of essential pentosuria in a morphin addict who also occasionally excreted a trace of glucose. In this type of pentosuria, r-arabinose, an optically inactive pentose, is usually excreted. Janeway4was able to compile from the literature twenty-four of these cases up to the year 1906. In the two cases of chronic pentosuria that have come under my observation, the patients were: Mrs. A., Jewish, aged 30, who was told twelve years ago that small amounts of sugar were present in the urine. At no time has
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.
