{"id":"2b327286-b95d-5046-9c0a-5e7e29f22a78","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:aasa-pde-biomarker","predicate":"biomarker_of","statement":"Elevated AASA was observed in an 18-patient PDE cohort with ALDH7A1 investigation, including during pyridoxine treatment.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"bdbd3f11-b321-559d-a24d-b435370bb847","mechanism_event_label":"AASA measurement can reveal disturbed lysine breakdown.","subject":{"id":"7d67a576-2d6f-5556-863c-d1dfd273f687","slug":"alpha-aminoadipate-semialdehyde","display_name":"alpha-Aminoadipate semialdehyde","entity_type_key":"small_molecule"},"object":{"id":"e5479b92-70d9-52ec-b861-b41806db5ca4","slug":"aldh7a1","display_name":"Antiquitin / ALDH7A1","entity_type_key":"protein"},"evidence_count":1,"mechanism_event":{"id":"bdbd3f11-b321-559d-a24d-b435370bb847","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:aasa-pde-biomarker-event","event_type":"observed_intervention","label":"AASA measurement can reveal disturbed lysine breakdown.","description":"Elevated AASA was observed in an 18-patient PDE cohort with ALDH7A1 investigation, including during pyridoxine treatment.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"7d67a576-2d6f-5556-863c-d1dfd273f687","slug":"alpha-aminoadipate-semialdehyde","display_name":"alpha-Aminoadipate semialdehyde","entity_type_key":"small_molecule"},"role":"measured_biomarker","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"e5479b92-70d9-52ec-b861-b41806db5ca4","slug":"aldh7a1","display_name":"Antiquitin / ALDH7A1","entity_type_key":"protein"},"role":"associated_machinery","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"788366f7-4a9d-51e7-adbd-0a87afe092c0","slug":"pipecolate","display_name":"L-Pipecolate","entity_type_key":"small_molecule"},"role":"co_measured_biomarker","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"affected_machinery","value_text":"ALDH7A1 under investigation","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"availability_state","value_text":"biomarker_context","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 clinical cohort; plasma and urine assays","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"A biomarker is not itself a diagnosis or proof of dietary lysine deficiency.","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":"AASA measurement can reveal disturbed lysine breakdown.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[plecko2007] Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene (2007). https://pubmed.ncbi.nlm.nih.gov/17068770/ DOI: 10.1002/humu.20433","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Plasma and urine","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"biomarker_context","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"266eae84-002a-55fc-8780-1a272ad51b94","evidence_kind":"source_excerpt","locator":"Lines 324-334","start_line":324,"end_line":334,"excerpt":"### aasa-pde-biomarker\nElevated AASA was observed in an 18-patient PDE cohort with ALDH7A1 investigation, including during pyridoxine treatment.\nPlain language: AASA measurement can reveal disturbed lysine breakdown.\nCondition category: biomarker_context\norganism: Homo sapiens\ntissue_or_cell_type: Plasma and urine\nexperimental_model: Human clinical cohort; plasma and urine assays\nlimitations: A biomarker is not itself a diagnosis or proof of dietary lysine deficiency.\naffected_machinery: ALDH7A1 under investigation\ndeficiency_not_equivalent: Dietary lysine deficiency\n[plecko2007] Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene (2007). https://pubmed.ncbi.nlm.nih.gov/17068770/ DOI: 10.1002/humu.20433","model_system":"Human clinical cohort; plasma and urine assays","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact quote from the accompanying curation document, not from publisher text. Original study references: [plecko2007] Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene (2007). https://pubmed.ncbi.nlm.nih.gov/17068770/ DOI: 10.1002/humu.20433","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. Not publisher full text.","file_path":"","sha256":"93998d47c21525409ba82f1c82ededf2893dff15fbe61c7deffc175b0e298e97","revision_id":"3897e31f-6624-59e1-a053-8a81b7361632","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}