{"id":"782cbb0b-cdad-5e56-9837-da40f55b9b47","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:aldh7a1-metabolite-accumulation","predicate":"impairment_accumulates","statement":"ALDH7A1 deficiency reduces aldehyde clearance, increasing AASA and its equilibrium partner P6C.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"7a5a83ce-5aaf-59b8-a616-468c24eecb66","mechanism_event_label":"An enzyme block allows reactive lysine metabolites to accumulate.","subject":{"id":"e5479b92-70d9-52ec-b861-b41806db5ca4","slug":"aldh7a1","display_name":"Antiquitin / ALDH7A1","entity_type_key":"protein"},"object":{"id":"7d67a576-2d6f-5556-863c-d1dfd273f687","slug":"alpha-aminoadipate-semialdehyde","display_name":"alpha-Aminoadipate semialdehyde","entity_type_key":"small_molecule"},"evidence_count":1,"mechanism_event":{"id":"7a5a83ce-5aaf-59b8-a616-468c24eecb66","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:aldh7a1-metabolite-accumulation-event","event_type":"biochemical_relationship","label":"An enzyme block allows reactive lysine metabolites to accumulate.","description":"ALDH7A1 deficiency reduces aldehyde clearance, increasing AASA and its equilibrium partner P6C.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"e5479b92-70d9-52ec-b861-b41806db5ca4","slug":"aldh7a1","display_name":"Antiquitin / ALDH7A1","entity_type_key":"protein"},"role":"impaired_machinery","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"7d67a576-2d6f-5556-863c-d1dfd273f687","slug":"alpha-aminoadipate-semialdehyde","display_name":"alpha-Aminoadipate semialdehyde","entity_type_key":"small_molecule"},"role":"accumulating_metabolite","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"9a7b1d83-ebb2-5dea-b4a7-c040502fba4d","slug":"piperideine-6-carboxylate","display_name":"Delta1-piperideine-6-carboxylate","entity_type_key":"small_molecule"},"role":"equilibrium_partner","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"affected_machinery","value_text":"ALDH7A1","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"deficiency_not_equivalent","value_text":"Dietary lysine deficiency","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human patient biochemical and genetic evidence","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Inherited enzyme failure is distinct from inadequate lysine intake.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"An enzyme block allows reactive lysine metabolites to accumulate.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[mills2006] Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (2006). https://pubmed.ncbi.nlm.nih.gov/16491085/ DOI: 10.1038/nm1366","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Affected tissues and body fluids","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":"f9d87ac8-94c5-54f5-adb5-b51941f885a3","evidence_kind":"source_excerpt","locator":"Lines 254-264","start_line":254,"end_line":264,"excerpt":"### aldh7a1-metabolite-accumulation\nALDH7A1 deficiency reduces aldehyde clearance, increasing AASA and its equilibrium partner P6C.\nPlain language: An enzyme block allows reactive lysine metabolites to accumulate.\nCondition category: machinery_impairment\norganism: Homo sapiens\ntissue_or_cell_type: Affected tissues and body fluids\nexperimental_model: Human patient biochemical and genetic evidence\nlimitations: Inherited enzyme failure is distinct from inadequate lysine intake.\naffected_machinery: ALDH7A1\ndeficiency_not_equivalent: Dietary lysine deficiency\n[mills2006] Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (2006). https://pubmed.ncbi.nlm.nih.gov/16491085/ DOI: 10.1038/nm1366","model_system":"Human patient biochemical and genetic evidence","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact quote from the accompanying curation document, not from publisher text. Original study references: [mills2006] Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (2006). https://pubmed.ncbi.nlm.nih.gov/16491085/ DOI: 10.1038/nm1366","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"7633bde7-dcc9-5086-91c6-a45eb96857f3","stable_key":"import-c3df3634-4c3a-5099-a5d9-e4f6344c1084","title":"L-Lysine: mechanism-first literature curation (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. 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