{"id":"9c2ae7f6-ec94-5c24-aa30-e3d5fe534950","stable_key":"08ce9896-9d1c-5bbf-b705-5bfe771091d5:b7-btd-low-activity","predicate":"is_deficient_in","statement":"The five affected children had serum biotinidase activity at 0–3% of the control mean, with combined carboxylase abnormalities.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"5e74e829-9c97-5cc5-be3c-ea44dc93f2fa","mechanism_event_label":"A recycling defect can affect several enzyme pathways at once.","subject":{"id":"a6be9616-d5eb-5ae1-b49b-a7320af1c5f3","slug":"btd","display_name":"Human biotinidase / BTD","entity_type_key":"protein"},"object":{"id":"47c7daa1-c80b-551b-a920-e57b027cfaa8","slug":"human-serum-btd-activity","display_name":"Human serum biotinidase activity","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"5e74e829-9c97-5cc5-be3c-ea44dc93f2fa","stable_key":"08ce9896-9d1c-5bbf-b705-5bfe771091d5:b7-btd-low-activity-event","event_type":"observed_intervention","label":"A recycling defect can affect several enzyme pathways at once.","description":"The five affected children had serum biotinidase activity at 0–3% of the control mean, with combined carboxylase abnormalities.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"37a8e96b-f95b-5ba7-a0bc-8ed3cfaf5fd8","slug":"biotin","display_name":"Biotin","entity_type_key":"small_molecule"},"role":"recycled nutrient","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"3c3d417d-839e-5961-ba2b-03172066c442","slug":"biocytin","display_name":"Biocytin / N-epsilon-biotinyl-L-lysine","entity_type_key":"small_molecule"},"role":"recycling substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"a6be9616-d5eb-5ae1-b49b-a7320af1c5f3","slug":"btd","display_name":"Human biotinidase / BTD","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"47c7daa1-c80b-551b-a920-e57b027cfaa8","slug":"human-serum-btd-activity","display_name":"Human serum biotinidase activity","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/biotin-research/6883721.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"0f881dd651d45537377661fc515239c3babb7160c3dbd53b8b0611ba33625aaa\", \"start_char\": 0, \"end_char\": 1500, \"text_sha256\": \"0f881dd651d45537377661fc515239c3babb7160c3dbd53b8b0611ba33625aaa\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Serum enzyme assays in 5 children with late-onset multiple carboxylase deficiency and family members","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Inherited deficiency; patient/control comparison","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Early small case series; the serum enzyme phenotype is genetic machinery impairment, not proof of low dietary intake.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Biotin research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"biotin","display_name":"Biotin","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A recycling defect can affect several enzyme pathways at once.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[b7-p6883721] Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. (1983). https://pubmed.ncbi.nlm.nih.gov/6883721/ DOI: 10.1016/0009-8981(83)90096-7","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Serum and biochemical disease phenotype","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":"8373f0d9-7925-53af-b8e5-dd8d397808fb","evidence_kind":"source_excerpt","locator":"Lines 468-479","start_line":468,"end_line":479,"excerpt":"### b7-btd-low-activity\nThe five affected children had serum biotinidase activity at 0–3% of the control mean, with combined carboxylase abnormalities.\nCondition category: machinery_impairment\nnutrient_topic: Biotin research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A recycling defect can affect several enzyme pathways at once.\norganism: Homo sapiens\ntissue_or_cell_type: Serum and biochemical disease phenotype\nexperimental_model: Serum enzyme assays in 5 children with late-onset multiple carboxylase deficiency and family members\nlimitations: Early small case series; the serum enzyme phenotype is genetic machinery impairment, not proof of low dietary intake.\nexposure: Inherited deficiency; patient/control comparison\nevidence_span: {\"source_cache\": \"artifacts/biotin-research/6883721.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"0f881dd651d45537377661fc515239c3babb7160c3dbd53b8b0611ba33625aaa\", \"start_char\": 0, \"end_char\": 1500, \"text_sha256\": \"0f881dd651d45537377661fc515239c3babb7160c3dbd53b8b0611ba33625aaa\"}\n[b7-p6883721] Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. 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