Rare & Orphan Lab · DeCure for X

DeCure for Essential fructosuria

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for essential fructosuria — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0111680$DeCureRare

The disease map

Disease moduleEssential fructosuria maps to a 2-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 essential fructosuria 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

ketohexokinase (KHK)KHK 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 vtjdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 8OME · 2.0 Å · ligand compound (VTJ). Experimental structure, not a prediction.

What the evidence adds up to

Essential fructosuria is described in these papers as a rare, apparently harmless error of metabolism in which the patient cannot utilise fructose normally, whether ingested as simple fructose or as cane sugar. The condition is characterised by symptomless excretion of fructose in the urine. Its recognition is considered important only because it may be mistaken for diabetes mellitus. A 1942 review of the literature found 55 reported cases, of which 39 fulfilled the diagnostic criteria; the authors of that review added two brothers of their own. A 1948 paper reports two further siblings. The ages of patients in the collected series ranged from 2½ to 87 years, and the condition had been seen in a father and two daughters and in sets of two and three siblings.

The 1942 paper notes that although several recent reports contained experimental results, none had yet substantiated an explanation of the mechanism of essential fructosuria. The authors presented their own experimental findings in two brothers, but the abstract gives no numerical data on fructose tolerance, blood levels, or enzyme activity. A 1936 study examined urine specimens from roughly 1,400 patients with nondiabetic melituria, using Seliwanoff’s test, and found no instance of fructosuria. The authors of that study had previously reported twenty-two cases of renal glycosuria and three cases of chronic essential pentosuria from the same population.

No treatment is mentioned in any of these abstracts. There is no evidence of any drug being tested or proposed for essential fructosuria. The condition is presented as benign and requiring no intervention. What is missing is any modern biochemical or genetic characterisation of the defect, any prospective natural history study with standardised fructose challenge, and any investigation of whether long-term outcomes are truly benign in all cases. No trial design, patient stratification, or funding for such work is described.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

American journal of diseases of children · 1942 · 34 citations

ESSENTIAL FRUCTOSURIA

AbstractIn 1876 Zumier 1 and Czapek 2 each reported the occurrence of fructose in the urine of a nondiabetic patient. Though it is clear that in both cases fructose was present in the urine, there are insufficient data in the reports of these authors to warrant the conclusion that they were dealing with instances of the syndrome of essential fructosuria. Since 1876 there have appeared some thirty-seven reports describing 55 cases of essential fructosuria (table 1). Of these, sixteen do not give sufficient data to confirm the diagnosis. Though several of the more recent reports contain some experimental results, there has as yet been none which substantiates an explanation of the mechanism of essential fructosuria. This paper reports the cases of 2 brothers with essential fructosuria, together with some experimental results leading toward a possible explanation of the mechanism of this condition. REPORT OF CASES Case1.—A. G., a 7

https://doi.org/10.1001/archpedi.1942.02010020037004
JAMA · 1936 · 10 citations

ESSENTIAL FRUCTOSURIA

AbstractFollowing the publication in September 1934 by Silver and Reiner<sup>1</sup>of studies on six cases of essential fructosuria, at Dr. Joslin's suggestion we set about to ascertain whether or not we had been, overlooking such cases in our patients with nondiabetic melituria. Earlier careful studies of the records and in certain instances special studies of the blood and urine of some 1,400 such patients had led to the reporting in 1932 of twenty-two cases of renal glycosuria possessing a very low renal threshold<sup>2</sup>and three cases of chronic essential pentosuria.<sup>3</sup>At that time, although Seliwanoff's test was carried out in each of the cases reported, no instance of fructosuria was disclosed. Our procedure in the recent study has been as follows: On urine specimens found by the routine Benedict test to contain sugar, the test was repeated, but instead of the mixture of Benedict's solution and urine

https://doi.org/10.1001/jama.1936.02770010026007
Archives of Pediatrics and Adolescent Medicine · 1948 · 3 citations

ESSENTIAL FRUCTOSURIA IN TWO SIBLINGS

AbstractESSENTIAL fructosuria, apparently a harmless condition, is an extremely rare error of metabolism, the recognition of which is of importance because it may be mistaken for diabetes mellitus. It is characterized by the patient's inability to utilize fructose normally, whether it is ingested as simple fructose or as a substance capable of yielding fructose on digestion, such as cane sugar. It is manifest clinically by a symptomless excretion of fructose in the urine. The infrequency of the condition seems to justify the report of 2 cases. In 1942, Sachs, Sternfield and Kraus<sup>1</sup>reviewed 55 cases in the literature, 39 of which fulfilled the criteria for essential fructosuria. In this series, the ages of the patients ranged from 2½ to 87 years, with representation in all decades. The condition has been seen in a father and 2 daughters and in sets of 2 and 3 siblings. Lasker<sup>2</sup>supplied evidence

https://doi.org/10.1001/archpedi.1948.02030020097011

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.