{"id":"68c21205-34d7-5864-ae7b-e4af12829751","stable_key":"41a89233-da9a-5b7b-9c18-e19bbadcfe2d:methionine-mat1-neurologic-context","predicate":"associates_with","statement":"The cohort contained 32 patients with and 32 without CNS findings; higher mean methionine, often at least 800 micromolar, was associated with abnormalities.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"7e83a8e4-61fa-5322-8f5d-88dfcc82cc04","mechanism_event_label":"The same diagnosis had variable neurologic outcomes.","subject":{"id":"cb5f559a-b039-5343-af6b-a473470f662d","slug":"human-mat1a-hypermethioninemia","display_name":"Hypermethioninemia in human MAT1A deficiency","entity_type_key":"cellular_process"},"object":{"id":"10190e65-9df9-5fa5-a7bc-f85cf8d8292e","slug":"human-mat1a-cns-abnormalities","display_name":"CNS abnormalities in the MAT1A cohort","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"7e83a8e4-61fa-5322-8f5d-88dfcc82cc04","stable_key":"41a89233-da9a-5b7b-9c18-e19bbadcfe2d:methionine-mat1-neurologic-context-event","event_type":"observed_relationship","label":"The same diagnosis had variable neurologic outcomes.","description":"The cohort contained 32 patients with and 32 without CNS findings; higher mean methionine, often at least 800 micromolar, was associated with abnormalities.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"cb5f559a-b039-5343-af6b-a473470f662d","slug":"human-mat1a-hypermethioninemia","display_name":"Hypermethioninemia in human MAT1A deficiency","entity_type_key":"cellular_process"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"10190e65-9df9-5fa5-a7bc-f85cf8d8292e","slug":"human-mat1a-cns-abnormalities","display_name":"CNS abnormalities in the MAT1A cohort","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"9d39f561-740b-5f67-bba7-8a72ef612a99","slug":"methionine","display_name":"L-Methionine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"biomarker_context","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":"Retrospective international human case aggregation; MRI and clinical data.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Association in a rare disease is not a universal toxicity threshold or a controlled dietary experiment.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Methionine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"methionine","display_name":"L-Methionine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"The same diagnosis had variable neurologic outcomes.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. · 2015 · https://pubmed.ncbi.nlm.nih.gov/26289392/ · DOI 10.1186/s13023-015-0321-y","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":"d371af30-868f-5ecb-816d-65134b19e3c8","evidence_kind":"source_excerpt","locator":"Lines 164-170","start_line":164,"end_line":170,"excerpt":"## methionine-mat1-neurologic-context\nThe same diagnosis had variable neurologic outcomes.\nThe cohort contained 32 patients with and 32 without CNS findings; higher mean methionine, often at least 800 micromolar, was associated with abnormalities.\nModel: Retrospective international human case aggregation; MRI and clinical data.\nLimitations: Association in a rare disease is not a universal toxicity threshold or a controlled dietary experiment.\nEvidence access: Primary abstract\nMudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. · 2015 · https://pubmed.ncbi.nlm.nih.gov/26289392/ · DOI 10.1186/s13023-015-0321-y","model_system":"Retrospective international human case aggregation; MRI and clinical data.","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":"d969b004-ccc2-5bb4-9109-8ac649137ad1","stable_key":"import-41a89233-da9a-5b7b-9c18-e19bbadcfe2d","title":"L-Methionine: transport, methylation, sulfur metabolism and cross-nutrient mechanisms (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text.","file_path":"","sha256":"f1c706ef72932eed85df234b6c3304158d503d626a63c69b02a453c162700d26","revision_id":"549035e0-3a72-550a-8a55-e8c5baa51b0d","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}