{"id":"bad12afe-59a0-5664-86c3-353835daaad3","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-baat-loss","predicate":"genetic_defects_impair","statement":"Patients with defective bile acid amidation lacked glycine and taurine conjugates in urine, bile and serum; four homozygous BAAT mutations were identified among eight tested patients.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"60f4710a-f5f1-5fc7-a238-0e437ff5568e","mechanism_event_label":"A broken conjugation enzyme affects both amino-acid routes.","subject":{"id":"b1127d16-82be-5dd0-90db-aa1af23011f0","slug":"baat","display_name":"Human bile acid-CoA:amino acid N-acyltransferase / BAAT","entity_type_key":"protein"},"object":{"id":"e3b41128-9aa7-55b5-9f14-25c8bf145ba4","slug":"human-bile-amidation","display_name":"Human hepatic bile acid amidation","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"60f4710a-f5f1-5fc7-a238-0e437ff5568e","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-baat-loss-event","event_type":"observed_relationship","label":"A broken conjugation enzyme affects both amino-acid routes.","description":"Patients with defective bile acid amidation lacked glycine and taurine conjugates in urine, bile and serum; four homozygous BAAT mutations were identified among eight tested patients.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"b1127d16-82be-5dd0-90db-aa1af23011f0","slug":"baat","display_name":"Human bile acid-CoA:amino acid N-acyltransferase / BAAT","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"e3b41128-9aa7-55b5-9f14-25c8bf145ba4","slug":"human-bile-amidation","display_name":"Human hepatic bile acid amidation","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"2b507258-430c-51fe-9fd2-e510c2c197a9","slug":"glycine","display_name":"Glycine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"4f4ae3d8-b415-53b7-8262-46d90815a0c9","slug":"taurocholate","display_name":"Taurocholate","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"e423cd36-f183-522b-a5e4-5f9ef50eee7e","slug":"taurine","display_name":"Taurine","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":"Ten pediatric patients; bile chemistry and genetic investigation.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Not evidence that isolated dietary taurine shortage causes the same phenotype.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"taurine","display_name":"Taurine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A broken conjugation enzyme affects both amino-acid routes.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. · 2013 · https://pubmed.ncbi.nlm.nih.gov/23415802/ · DOI 10.1053/j.gastro.2013.02.004","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":"c96ac671-509a-5080-9470-8115c468a58d","evidence_kind":"source_excerpt","locator":"Lines 313-319","start_line":313,"end_line":319,"excerpt":"## taurine-baat-loss\nA broken conjugation enzyme affects both amino-acid routes.\nPatients with defective bile acid amidation lacked glycine and taurine conjugates in urine, bile and serum; four homozygous BAAT mutations were identified among eight tested patients.\nModel: Ten pediatric patients; bile chemistry and genetic investigation.\nLimitations: Not evidence that isolated dietary taurine shortage causes the same phenotype.\nEvidence access: Primary abstract\nGenetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. · 2013 · https://pubmed.ncbi.nlm.nih.gov/23415802/ · DOI 10.1053/j.gastro.2013.02.004","model_system":"Ten pediatric patients; bile chemistry and genetic investigation.","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":"dc8d9ab8-fdf9-5107-877c-336cf8005097","stable_key":"import-1acdb1e8-2159-5c7f-b39f-0153ff8024ae","title":"Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text.","file_path":"","sha256":"c6cb77619a374d9b1b04830032fdd3b33d269d160df5baba3778fad5adf57db5","revision_id":"cc45c491-cc6a-5426-ab72-d7c6d26c3614","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}