DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for arginase deficiency — 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 moduleArginase deficiency 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 arginase 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
arginase 1 (ARG1) — ARG1 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 sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2AEB · 1.29 Å · ligand 2(S)-AMINO-6-BORONOHEXANOIC ACID (ABH). Experimental structure, not a prediction.
What the evidence adds up to
Arginase deficiency, also called argininemia, is a rare autosomal recessive disorder of the urea cycle. Two unrelated patients, previously thought to have cerebral palsy, were later found to have arginase deficiency, suggesting the condition may be underdiagnosed because of its relatively mild symptoms. One patient was a 9-year-old boy born at term after an uncomplicated pregnancy. The disorder typically presents with progressive psychomotor retardation, growth failure, seizures, and spasticity that affects the lower extremities more than the upper. It does not commonly have the severe hyperammonemia seen with other urea cycle disorders.
A new case in a Spanish male newborn showed severe protein intolerance of early onset, in contrast with the majority of earlier cases. The diagnosis was made by assaying urea cycle enzymes in a postmortem liver sample. Levels of erythrocyte arginase in the parents and a sister were consistent with heterozygosity. From the pedigree study it appears that arginase deficiency in this family presents a dramatic course.
An inherited arginase deficiency has also been described in the erythrocytes of certain sheep. Arginase catalyses the conversion of arginine to ornithine and urea, and is a key enzyme of the urea cycle. Inherited arginase deficiencies had previously been found in two primate species.
What is still missing are systematic prospective studies to establish the true incidence of arginase deficiency, given that it may be mistaken for cerebral palsy. No controlled treatment trials have been reported in these abstracts, and no data on long-term outcomes or survival with any intervention are provided. Patient stratification by age at onset and severity of protein intolerance remains unexplored.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
PEDIATRICS · 1993 · 31 citations
Arginase Deficiency Presenting as Cerebral Palsy
AbstractArginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.
Journal of Inherited Metabolic Disease · 1986 · 28 citations
A new case of arginase deficiency in a Spanish male
AbstractA new case of arginase deficiency is reported in a male newborn from Spain. In contrast with the majority of the earlier cases, this infant showed severe protein intolerance of early onset. The diagnosis was based on the assay of the urea cycle enzymes in a postmortem liver sample. Levels of erythrocyte arginase were also determined in the parents and in a sister of the patient, and were consistent with heterozygosity. From a study of the pedigree it appears that arginase deficiency in this family presents a dramatic course.
The Journal of Agricultural Science · 1977 · 8 citations
An inherited arginase deficiency in sheep erythrocytes
AbstractArginase (EC 3.5.3.1) catalyses the conversion of arginine to ornithine and urea, and is a key enzyme of the urea cycle. The enzyme is present in high activity in various mammalian red cells (Nishibe, 1973, 1974; Owczarczyk & Barej, 1975) and inherited arginase deficiencies have been found in two primate species (Shih et al. 1972; Terheggen, Lavinha & Colombo, 1972). The present paper describes an inherited arginase deficiency in the erythrocytes of certain sheep.
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.
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