{"id":"9b82c44d-11d6-532d-a8c2-776b7de2b50b","stable_key":"911fb3c7-8cc3-5667-b677-5682fab67648:histidine-ftcd-screening-spectrum","predicate":"associates_with","statement":"Among 18 newborn-screen-detected FTCD-deficient patients, most were asymptomatic at mean 56-month follow-up; 3/18 had educationally significant developmental delay and 4/16 mild self-limited anemia.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"406b4997-b465-5db3-9390-db366b07ea29","mechanism_event_label":"A biochemical processing defect did not uniformly produce severe disease.","subject":{"id":"fd72cb8e-7c19-5d04-821c-2217dfe1dd23","slug":"human-ftcd-deficiency","display_name":"Human FTCD deficiency","entity_type_key":"cellular_process"},"object":{"id":"39ab812e-ba38-57d7-9973-5cc8814eaa5e","slug":"figlu","display_name":"N-Formimino-L-glutamate","entity_type_key":"small_molecule"},"evidence_count":1,"mechanism_event":{"id":"406b4997-b465-5db3-9390-db366b07ea29","stable_key":"911fb3c7-8cc3-5667-b677-5682fab67648:histidine-ftcd-screening-spectrum-event","event_type":"observed_relationship","label":"A biochemical processing defect did not uniformly produce severe disease.","description":"Among 18 newborn-screen-detected FTCD-deficient patients, most were asymptomatic at mean 56-month follow-up; 3/18 had educationally significant developmental delay and 4/16 mild self-limited anemia.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"fd72cb8e-7c19-5d04-821c-2217dfe1dd23","slug":"human-ftcd-deficiency","display_name":"Human FTCD deficiency","entity_type_key":"cellular_process"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"39ab812e-ba38-57d7-9973-5cc8814eaa5e","slug":"figlu","display_name":"N-Formimino-L-glutamate","entity_type_key":"small_molecule"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"44374451-3436-5136-a8ae-5dcc6d8c353b","slug":"histidine","display_name":"L-Histidine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"fe0cc4ee-60bc-5b41-a073-114f8e4107b6","slug":"ftcd","display_name":"Human formimidoyltransferase cyclodeaminase / FTCD","entity_type_key":"protein"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"d2b23343-c688-5fc3-9f42-bfac0050552b","slug":"tetrahydrofolate","display_name":"Tetrahydrofolate","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":4,"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":"Retrospective two-center newborn-screen cohort.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Ascertainment differs from early severe case series; follow-up is limited and this does not exclude later or rare severe effects. Correction record: The 2019 publisher erratum corrects patient 4 genotypes to c.1366dupG (p.E456Gfs*56) and c.236A>C (p.Q79P). The imported cohort-outcome claim does not use the erroneous genotype labels. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12145","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Histidine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"histidine","display_name":"L-Histidine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A biochemical processing defect did not uniformly produce severe disease.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. · 2019 · https://pubmed.ncbi.nlm.nih.gov/30740726/ · DOI 10.1002/jimd.12035","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":"b4257919-e6a0-5c3c-b3ae-ff9590d6d713","evidence_kind":"source_excerpt","locator":"Lines 194-200","start_line":194,"end_line":200,"excerpt":"## histidine-ftcd-screening-spectrum\nA biochemical processing defect did not uniformly produce severe disease.\nAmong 18 newborn-screen-detected FTCD-deficient patients, most were asymptomatic at mean 56-month follow-up; 3/18 had educationally significant developmental delay and 4/16 mild self-limited anemia.\nModel: Retrospective two-center newborn-screen cohort.\nLimitations: Ascertainment differs from early severe case series; follow-up is limited and this does not exclude later or rare severe effects. Correction record: The 2019 publisher erratum corrects patient 4 genotypes to c.1366dupG (p.E456Gfs*56) and c.236A>C (p.Q79P). The imported cohort-outcome claim does not use the erroneous genotype labels. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12145\nEvidence access: Primary abstract\nCharacteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. · 2019 · https://pubmed.ncbi.nlm.nih.gov/30740726/ · DOI 10.1002/jimd.12035","model_system":"Retrospective two-center newborn-screen cohort.","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":"ce59e6c9-1213-523b-9d0b-400b7a81cd1c","stable_key":"import-911fb3c7-8cc3-5667-b677-5682fab67648","title":"L-Histidine: supply, catabolism, histamine, receptors 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":"cb672530ec8b4a4542d0f3957e80ca76bb0449e9f988845b0f7681f623c4ec9b","revision_id":"19a7f26c-d9a1-5411-a81d-025f3d98a452","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}