Rare & Orphan Lab · DeCure for X
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for methylmalonic acidemia with homocystinuria, type cblX — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
No approved-drug candidate for methylmalonic acidemia with homocystinuria, type cblx 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.
THAP domain containing 11 (THAP11) — THAP11 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.
RCSB Protein Data Bank · entry 5AJS · 2.3 Å · ligand none (apo structure). Experimental structure, not a prediction.
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractInherited diseases of cobalamin (cbl) intracellular metabolism are very rare disorders affecting the synthesis of adenosylcobalamin or methylcobalamin. Methylcobalamin deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria (figure e-1
https://doi.org/10.1212/wnl.0b013e318260451bAbstractMethylmalonic acidemia (MMA) with homocystinuria cblD & cblF type, a very rare disorder of vitamin B12 metabolism, can result in severe neurological complications in a child. The incidence of combined MMA with homocystinuria cblD & cblF type is estimated as less than 1: 100,000. Mutation analysis by next-generation sequencing (NGS) and validation of the NGS variant by Sanger sequencing, is not only the gold standard in diagnosis of MMA but also, can help in the choice of treatment strategy as B12 responsive or unresponsive. We report a male child initially presented at 10 months of age with poor feeding, delayed growth and no head control (milestone, normally present at 3-4 months). The child on evaluation was diagnosed as a case of MMA with homocystinuria type cblD & cblF, based on investigations such as liquid chromatography-mass spectrometry (LC-MS) and mutation analysis done by next-generation sequencing (NGS) validation with Sanger sequencing. He was treated with vitamin B12 supplements and other supportive conservative therapy. Subsequently, he developed global developmental delay and severe neurological complications, within two years. The child was admitted to the pediatric ICU and he underwent percutaneous endoscopic gastrostomy (PEG) and placed on mechanical ventilation via tracheostomy in situ. Unfortunately, the child did not respond to treatment and succumbed to death, despite all resuscitative measures. The aim of this case report is to create awareness about a clinical presentation associated with a very rare metabolic disorder, MMA with homocystinuria cblD & cblF types and the need for early diagnosis, also, to establish an outline for the treatment in these patients.
https://doi.org/10.18231/j.ijcbr.2023.043Disease 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.
