{"id":"25c1176a-ac5a-5443-8477-b5effc8b0c05","stable_key":"c9aa15a1-8ba2-5913-b2dd-372af304bf87:fast-scot-defect","predicate":"loss_of_function_associated_with","statement":"G219E and G324E constructs had no detectable SCOT activity; patients had episodic ketoacidosis.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"be63a015-fcb2-5dfb-8e29-b693206f3ead","mechanism_event_label":"Ketones can accumulate when utilization machinery fails.","subject":{"id":"0f897c17-054b-5846-b5c6-90647d7e8cbf","slug":"oxct1","display_name":"Human succinyl-CoA:3-ketoacid CoA transferase / OXCT1","entity_type_key":"protein"},"object":{"id":"74a690d7-e037-5c73-8b19-652b77fc38f5","slug":"scot-deficiency-ketoacidosis","display_name":"Ketoacidosis associated with SCOT deficiency","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"be63a015-fcb2-5dfb-8e29-b693206f3ead","stable_key":"c9aa15a1-8ba2-5913-b2dd-372af304bf87:fast-scot-defect-event","event_type":"observed_relationship","label":"Ketones can accumulate when utilization machinery fails.","description":"G219E and G324E constructs had no detectable SCOT activity; patients had episodic ketoacidosis.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"0f897c17-054b-5846-b5c6-90647d7e8cbf","slug":"oxct1","display_name":"Human succinyl-CoA:3-ketoacid CoA transferase / OXCT1","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"74a690d7-e037-5c73-8b19-652b77fc38f5","slug":"scot-deficiency-ketoacidosis","display_name":"Ketoacidosis associated with SCOT deficiency","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"080d56d2-d9a3-5142-94f5-df5123d6ad8c","slug":"ketolysis","display_name":"Ketone-body utilization","entity_type_key":"cellular_process"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Three SCOT-deficient patients and mutant expression in fibroblasts.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Rare genetic disease, not nutritional ketosis in healthy adults.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Fasting physiological-state collection; human protocols, cellular deprivation and refeeding are distinguished.","comparator":null,"unit":null,"notes":"","entity":{"slug":"fasting","display_name":"Fasting / abstention from energy intake","entity_type_key":"cellular_process"}},{"dimension":"plain_language","value_text":"Ketones can accumulate when utilization machinery fails.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. · 2000 · https://pubmed.ncbi.nlm.nih.gov/10964512/ · DOI 10.1006/geno.2000.6282","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":"25c23c25-6793-53a5-b30d-6effb63153d5","evidence_kind":"source_excerpt","locator":"Lines 152-158","start_line":152,"end_line":158,"excerpt":"## fast-scot-defect\nKetones can accumulate when utilization machinery fails.\nG219E and G324E constructs had no detectable SCOT activity; patients had episodic ketoacidosis.\nModel: Three SCOT-deficient patients and mutant expression in fibroblasts.\nLimitations: Rare genetic disease, not nutritional ketosis in healthy adults.\nEvidence access: Primary abstract\nSuccinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. · 2000 · https://pubmed.ncbi.nlm.nih.gov/10964512/ · DOI 10.1006/geno.2000.6282","model_system":"Three SCOT-deficient patients and mutant expression in fibroblasts.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; evidence access and experimental limitations specified.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"921d1eb5-2c88-52b9-9898-60b2b5bf6029","stable_key":"import-c9aa15a1-8ba2-5913-b2dd-372af304bf87","title":"Fasting: fuel switching, nutrient sensing, ketone signaling, nutrient dependencies and refeeding (2026-09-18)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary-abstract references and experimental limitations individually identified. 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