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The experiment identifies a machinery defect rather than a lack of dietary B1.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[danhauser-2012-dhtkd1] DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria (2012). https://pubmed.ncbi.nlm.nih.gov/23141293/ DOI: 10.1016/j.ajhg.2012.10.006","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Cultured fibroblasts","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"eb63732e-d741-5aa1-b97e-0cf7ec1a7b1f","evidence_kind":"source_excerpt","locator":"Lines 909-921","start_line":909,"end_line":921,"excerpt":"### b1-dhtkd1-patient-lysine-turnover\nPatient DHTKD1-deficient fibroblasts accumulated deuterium-labeled 2-oxoadipate from labeled lysine; wild-type DHTKD1 expression normalized the biochemical defect.\nCondition category: machinery_impairment\nnutrient_topic: Thiamine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Replacing the faulty enzyme restored the tested metabolic step. The experiment identifies a machinery defect rather than a lack of dietary B1.\norganism: Homo sapiens\ntissue_or_cell_type: Cultured fibroblasts\nexperimental_model: Patient fibroblasts, isotope tracing and lentiviral complementation.\nlimitations: Two individuals; neurological phenotypes vary and biochemical rescue does not prove a clinical treatment.\nevidence: [{\"paper_key\": \"danhauser-2012-dhtkd1\", \"source_bundle\": \"artifacts/thiamine_metabolism_sources.json\", \"passage_ids\": [\"abstract\"], \"locator\": \"Primary publication abstract\", \"preservation\": \"Exact text retained in the source bundle; full source document retained when openly retrievable.\"}]\ncross_nutrient: A B1-dependent enzyme connects lysine degradation to glutaryl-CoA metabolism.\nnutrient: Thiamine (vitamin B1)\n[danhauser-2012-dhtkd1] DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria (2012). https://pubmed.ncbi.nlm.nih.gov/23141293/ DOI: 10.1016/j.ajhg.2012.10.006","model_system":"Patient fibroblasts, isotope tracing and lentiviral complementation.","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [danhauser-2012-dhtkd1] DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria (2012). https://pubmed.ncbi.nlm.nih.gov/23141293/ DOI: 10.1016/j.ajhg.2012.10.006","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"158d2c03-ac8c-589f-8270-c468165ae346","stable_key":"import-46d15d9e-d3b5-544d-ba01-b785aa3e4f42","title":"Thiamine: mechanisms, deficiency and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"f376512fb3310141315548015b387833e3af45146e73fb73cd02cee20e4ddb9c","revision_id":"53bc5eda-dec8-58cc-a56f-a9eb4ab036ef","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}