DeCure for Inborn disorder of amino acid metabolism
DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for inborn disorder of amino acid metabolism — screening already-approved drugs against its 32-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleInborn disorder of amino acid metabolism maps to a 32-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 inborn disorder of amino acid metabolism 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
beta-secretase 1 (BACE1) — BACE1 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 b7edrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6EJ2 · 1.46 Å · ligand compound 28 (B7E). Experimental structure, not a prediction.
What the evidence adds up to
The 1969 review by Scriver and the 1976 article on special diets both describe the management of inborn errors of amino acid metabolism through dietary control, specifically using semisynthetic products to correct amino acid imbalance. The 1976 piece notes that a sufficient variety of these products was then available for several disorders, but stresses that they must be used carefully with close monitoring, and that a wider variety of products was still needed. It recommends regionalising treatment in metabolic centres with accumulated experience and good laboratory support.
A 1969 symposium volume on brain damage from inborn errors of metabolism focused almost entirely on biochemistry, with most participants discussing amino acid disorders. Gaull is reported to have cast a critical eye on the then-current concepts of how such disorders cause brain damage. The 2023 narrative review describes aminoacidopathies as severe, rare genetic disorders caused by defective enzymes in metabolic pathways, and notes that diagnosis is challenging for most physicians because symptoms overlap. It states that the prognosis of many metabolic disorders has improved due to recent advances in diagnosis and treatment, and that diagnostic methods are based on organic acids in urine and acylcarnitine profiles.
No concrete numbers for survival, response rates, or sample sizes are given in any of these abstracts. The 2023 review does not report any trial results or specific therapeutic outcomes. The 1969 and 1976 articles predate modern newborn screening and do not provide data on long-term outcomes. What is still missing is evidence from controlled trials comparing different dietary regimens, standardised protocols for monitoring, and prospective data on neurological outcomes in treated versus untreated patients. The 2023 review calls for improved biochemical knowledge among clinicians but does not address the lack of funding for large-scale, multi-centre studies or the difficulty of stratifying patients by specific enzyme defect.
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 · 1976 · 32 citations
Special Diets for Infants With Inborn Errors of Amino Acid Metabolism
AbstractA sufficient variety of semisynthetic dietary products is now available to permit control of amino acid imbalance in several inborn errors of metabolism. However, they must be used carefully, and their effects monitored closely. Continuing development of products for this type of special diet—to provide a wider variety—is necessary. Regionalization of treatment programs for patients with inborn errors of metabolism is recommended. Metabolic centers which are accumulating experience and have good laboratory support may be the most efficient way of providing adequate treatment for patients with inborn errors of metabolism.
AbstractJournal Article INBORN ERRORS OF AMINO-ACID METABOLISM Get access CHARLES R. SCRIVER, M.D. CHARLES R. SCRIVER, M.D. The deBelle Laboratory for Biochemical Genetics The McGill University-Montreal Children's Hospital Research Institute MontrealCanada Search for other works by this author on: Oxford Academic PubMed Google Scholar British Medical Bulletin, Volume 25, Issue 1, January 1969, Pages 35–41, https://doi.org/10.1093/oxfordjournals.bmb.a070667 Published: 01 January 1969
Archives of Neuroscience · 2023 · 5 citations · open access
Clinical Features and Laboratory Diagnosis of Aminoacidopathies: A Narrative Review
AbstractContext: There are severe and rare groups of genetic disorders due to defects in metabolic pathways, and they are generally called inborn errors of metabolism. Amino acids, as the building blocks of proteins, have many important structural and functional roles in the human body. The deficiencies of functional enzymes cause defects in metabolic pathways and lead to aminoacidopathies. The diagnosis of aminoacidopathies is challenging for most physicians, as they can present with multiple overlapping symptoms. Evidence Acquisition: PubMed, Cochrane, Embase, and CINAHL were searched with MeSH terms: ‘inborn errors of metabolism' OR ‘Metabolism, Inborn Errors' (MeSH) AND ‘Humans' (MeSH) AND 'Amino Acids/therapeutic use'(MeSH) AND ‘Newborn, Child' (MeSH) OR ‘child' OR ‘newborn' AND "Neonatal Screening"(MeSH). Results: This study summarized some important issues, including clinical and laboratory diagnoses of phenylketonuria, tyrosinemia, methionine, homocysteine and cysteine, sulfite oxidase deficiency, molybdenum cofactor deficiency, tryptophan, glycine, hyperoxaluria, creatine deficiency disorders, serine, proline, glutamine, and urea cycle defect. Conclusions: The prognosis of many metabolic disorders has improved due to recent advances in diagnosis and treatment. The biochemical knowledge of clinicians should be improved to comprehend metabolic disorders. As the diagnostic methods are based on organic acids in urine and acylcarnitine profile, it is necessary to enhance biochemistry knowledge to understand the logic.
Journal of Nutrition and Metabolism · 2018 · 3 citations · open access
Amino Acids and Inherited Amino Acid-Related Disorders
AbstractAmino acids perform multiple essential physiological roles in humans, and accordingly, their importance to health has been the subject of extensive attention. In this special issue of the Journal of Nutrition and Metabolism, we focus on the various inborn errors of amino acid metabolism, their diagnostic challenges, new treatment approaches, and recent advances in patient monitoring as well as clinical outcomes.
Archives of General Psychiatry · 1969 · 1 citations
Brain Damage by Inborn Errors of Metabolism.
AbstractThe results of a symposium, held in Amsterdam in October 1967, are published in this small volume. The chairman of the symposium hoped that "the interdisciplinary study of inborn metabolic disorders which give rise to brain lesions . . . constitute a characteristic model of biological-psychiatric research." Pediatricians, neurologists, and a psychiatrist are ably represented in this symposium, although their emphasis is entirely biochemical. In particular, most of the participants discussed disorders of amino acid metabolism. Jonxis (Groningen) considered some general aspects of amino acid disorders, illustrating his concepts with the results of his own recent clinical and biochemical investigations. Screening procedures for disorders of amino acid metabolism were discussed by Wadman (Utrecht), Fleury (Amsterdam), and Bickel (Heidelburg). Gaull (Staten Island, NY) cast a critical eye upon our present concepts of the pathogenesis of the brain damage of inborn errors of amino
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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