{"id":"21c004a6-1a53-592f-8aee-fe4e1041d020","stable_key":"46d15d9e-d3b5-544d-ba01-b785aa3e4f42:thiamine-def-infant-normal-mri-boundary","predicate":"deficiency-can-produce","statement":"The index infant had nystagmus, ophthalmoplegia, elevated lactate and abnormal transketolase activation despite normal brain MRI.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"9f710cfc-73b2-5498-82ce-f8ab61178fda","mechanism_event_label":"Normal structural imaging did not exclude clinically important deficiency in this infant.","subject":{"id":"36b7c3eb-068b-500f-af1c-078829df1ecc","slug":"thiamine","display_name":"Thiamine (vitamin B1)","entity_type_key":"small_molecule"},"object":{"id":"8f0c05f4-4c98-50cf-bb64-dec9f7467c34","slug":"wernicke-neurologic-symptoms","display_name":"Wernicke encephalopathy neurological symptoms","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"9f710cfc-73b2-5498-82ce-f8ab61178fda","stable_key":"46d15d9e-d3b5-544d-ba01-b785aa3e4f42:thiamine-def-infant-normal-mri-boundary-event","event_type":"observed_intervention","label":"Normal structural imaging did not exclude clinically important deficiency in this infant.","description":"The index infant had nystagmus, ophthalmoplegia, elevated lactate and abnormal transketolase activation despite normal brain MRI.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"af53ced7-4786-5ca1-8ada-701af6aa6aca","slug":"blood-transketolase-activity","display_name":"Blood transketolase activity","entity_type_key":"cellular_process"},"role":"functional test; paper reported percent stimulation with added cofactor","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"36b7c3eb-068b-500f-af1c-078829df1ecc","slug":"thiamine","display_name":"Thiamine (vitamin B1)","entity_type_key":"small_molecule"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"8f0c05f4-4c98-50cf-bb64-dec9f7467c34","slug":"wernicke-neurologic-symptoms","display_name":"Wernicke encephalopathy neurological symptoms","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"nutrient_deficiency","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_location","value_text":"Results: Patient 1","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"evidence_span","value_text":"Brain magnetic resonance imaging (MRI) revealed no abnormalities","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Nine Israeli infants aged 2-12 months exposed to a defective soy-based formula in the 2003 outbreak; clinical examination, erythrocyte transketolase activation, lactate and selected neuroimaging.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Consumption of a formula with thiamine below the assay detection limit","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Single-patient diagnostic boundary; does not estimate MRI sensitivity or make every neurological symptom a thiamine-deficiency manifestation.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Thiamine research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"thiamine","display_name":"Thiamine (vitamin B1)","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Normal structural imaging did not exclude clinically important deficiency in this infant.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[fattal-valevski-2005-formula-outbreak] Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula. (2005). https://pubmed.ncbi.nlm.nih.gov/15687431/ DOI: 10.1542/peds.2004-1255","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Neurological examination and brain MRI","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"nutrient_deficiency","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"65ec5f3c-e8c2-5c5f-8617-7ebbafb39ee5","evidence_kind":"source_excerpt","locator":"Lines 1493-1505","start_line":1493,"end_line":1505,"excerpt":"### thiamine-def-infant-normal-mri-boundary\nThe index infant had nystagmus, ophthalmoplegia, elevated lactate and abnormal transketolase activation despite normal brain MRI.\nCondition category: nutrient_deficiency\nnutrient_topic: Thiamine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Normal structural imaging did not exclude clinically important deficiency in this infant.\norganism: Homo sapiens\ntissue_or_cell_type: Neurological examination and brain MRI\nexperimental_model: Nine Israeli infants aged 2-12 months exposed to a defective soy-based formula in the 2003 outbreak; clinical examination, erythrocyte transketolase activation, lactate and selected neuroimaging.\nlimitations: Single-patient diagnostic boundary; does not estimate MRI sensitivity or make every neurological symptom a thiamine-deficiency manifestation.\nevidence_location: Results: Patient 1\nevidence_span: Brain magnetic resonance imaging (MRI) revealed no abnormalities\nexposure: Consumption of a formula with thiamine below the assay detection limit\n[fattal-valevski-2005-formula-outbreak] Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula. (2005). https://pubmed.ncbi.nlm.nih.gov/15687431/ DOI: 10.1542/peds.2004-1255","model_system":"Nine Israeli infants aged 2-12 months exposed to a defective soy-based formula in the 2003 outbreak; clinical examination, erythrocyte transketolase activation, lactate and selected neuroimaging.","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [fattal-valevski-2005-formula-outbreak] Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula. (2005). https://pubmed.ncbi.nlm.nih.gov/15687431/ DOI: 10.1542/peds.2004-1255","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"158d2c03-ac8c-589f-8270-c468165ae346","stable_key":"import-46d15d9e-d3b5-544d-ba01-b785aa3e4f42","title":"Thiamine: mechanisms, deficiency and nutrient interactions (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":"f376512fb3310141315548015b387833e3af45146e73fb73cd02cee20e4ddb9c","revision_id":"53bc5eda-dec8-58cc-a56f-a9eb4ab036ef","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}