{"id":"a8232694-aada-5ba1-b097-e0db01ea8c4d","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-taut-heart-treatment","predicate":"treatment_associated_with_improvement","statement":"In two siblings with SLC6A6 p.Gly399Val and about 15% residual transport, supervised taurine treatment at 100 mg/kg/day normalized blood taurine and corrected cardiomyopathy after 24 months.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"c97f60dd-1780-5982-b766-d05b502ce0e7","mechanism_event_label":"A partially working transporter permitted a clinical treatment response in this family.","subject":{"id":"e423cd36-f183-522b-a5e4-5f9ef50eee7e","slug":"taurine","display_name":"Taurine","entity_type_key":"small_molecule"},"object":{"id":"c1742849-dd2f-5cb0-b623-4323e90db8af","slug":"human-taurine-deficiency-cardiomyopathy","display_name":"Cardiomyopathy in human SLC6A6 deficiency","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"c97f60dd-1780-5982-b766-d05b502ce0e7","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-taut-heart-treatment-event","event_type":"observed_relationship","label":"A partially working transporter permitted a clinical treatment response in this family.","description":"In two siblings with SLC6A6 p.Gly399Val and about 15% residual transport, supervised taurine treatment at 100 mg/kg/day normalized blood taurine and corrected cardiomyopathy after 24 months.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"e423cd36-f183-522b-a5e4-5f9ef50eee7e","slug":"taurine","display_name":"Taurine","entity_type_key":"small_molecule"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"c1742849-dd2f-5cb0-b623-4323e90db8af","slug":"human-taurine-deficiency-cardiomyopathy","display_name":"Cardiomyopathy in human SLC6A6 deficiency","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"c00b89ac-1c32-5d7d-aec4-490af879460a","slug":"slc6a6","display_name":"Human taurine transporter / SLC6A6","entity_type_key":"protein"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"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":"Uncontrolled two-sibling longitudinal treatment report.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Not a dosing recommendation or evidence that all SLC6A6 variants respond; residual transport and timing matter.","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 partially working transporter permitted a clinical treatment response in this family.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303","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":"7ffadc46-1435-50dd-9824-161cdb80ce52","evidence_kind":"source_excerpt","locator":"Lines 161-167","start_line":161,"end_line":167,"excerpt":"## taurine-taut-heart-treatment\nA partially working transporter permitted a clinical treatment response in this family.\nIn two siblings with SLC6A6 p.Gly399Val and about 15% residual transport, supervised taurine treatment at 100 mg/kg/day normalized blood taurine and corrected cardiomyopathy after 24 months.\nModel: Uncontrolled two-sibling longitudinal treatment report.\nLimitations: Not a dosing recommendation or evidence that all SLC6A6 variants respond; residual transport and timing matter.\nEvidence access: Primary abstract\nTaurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. · 2020 · https://pubmed.ncbi.nlm.nih.gov/31903486/ · DOI 10.1093/hmg/ddz303","model_system":"Uncontrolled two-sibling longitudinal treatment report.","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}