{"id":"9a184688-c6e9-53f7-9a3d-1b55e8fa008f","stable_key":"dc8975b1-95ff-5d9b-be17-a1c04610cca7:mo-mocd-course","predicate":"genetic_deficiency_associated_with","statement":"Forty-nine of 58 patients had neonatal-onset symptoms; seizures, feeding difficulties and progressive neurological disability were common.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"f5512e19-042d-5b1f-b1a0-c44a3e24ca61","mechanism_event_label":"Severe inherited assembly failure has a very different course from a mildly low nutrient intake.","subject":{"id":"ac4bcc03-66fb-52c1-b191-9ecb2124659f","slug":"molybdenum-cofactor","display_name":"Molybdenum cofactor / Moco","entity_type_key":"small_molecule"},"object":{"id":"1889a337-09ce-56fa-97eb-e67086e3c53c","slug":"mocd-neurological-outcome","display_name":"Neurological outcome in molybdenum cofactor deficiency","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"f5512e19-042d-5b1f-b1a0-c44a3e24ca61","stable_key":"dc8975b1-95ff-5d9b-be17-a1c04610cca7:mo-mocd-course-event","event_type":"observed_intervention","label":"Severe inherited assembly failure has a very different course from a mildly low nutrient intake.","description":"Forty-nine of 58 patients had neonatal-onset symptoms; seizures, feeding difficulties and progressive neurological disability were common.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"ac4bcc03-66fb-52c1-b191-9ecb2124659f","slug":"molybdenum-cofactor","display_name":"Molybdenum cofactor / Moco","entity_type_key":"small_molecule"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"1889a337-09ce-56fa-97eb-e67086e3c53c","slug":"mocd-neurological-outcome","display_name":"Neurological outcome in molybdenum cofactor deficiency","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"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/molybdenum-research/35192225.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ab9083746ef775c196770d3f4d0208378f1796abf1d7056fe5b23f60421032d4\", \"start_char\": 0, \"end_char\": 1812, \"text_sha256\": \"ab9083746ef775c196770d3f4d0208378f1796abf1d7056fe5b23f60421032d4\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Retrospective natural history in 58 patients; prospective biomarkers in 21 survivors","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"MoCD A:41; MoCD B:17","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Severe inherited cofactor defects; not a prevalence study of ordinary nutritional deficiency or a validated population screening threshold.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Molybdenum research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"molybdenum","display_name":"Molybdenum","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Severe inherited assembly failure has a very different course from a mildly low nutrient intake.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[mo-p35192225] Molybdenum cofactor deficiency: A natural history. (2022). https://pubmed.ncbi.nlm.nih.gov/35192225/ DOI: 10.1002/jimd.12488","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Neurological course and plasma/urine","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":"ee847c21-c87a-52cc-8ba1-9564cb727e0f","evidence_kind":"source_excerpt","locator":"Lines 1171-1182","start_line":1171,"end_line":1182,"excerpt":"### mo-mocd-course\nForty-nine of 58 patients had neonatal-onset symptoms; seizures, feeding difficulties and progressive neurological disability were common.\nCondition category: machinery_impairment\nnutrient_topic: Molybdenum research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Severe inherited assembly failure has a very different course from a mildly low nutrient intake.\norganism: Homo sapiens\ntissue_or_cell_type: Neurological course and plasma/urine\nexperimental_model: Retrospective natural history in 58 patients; prospective biomarkers in 21 survivors\nlimitations: Severe inherited cofactor defects; not a prevalence study of ordinary nutritional deficiency or a validated population screening threshold.\nexposure: MoCD A:41; MoCD B:17\nevidence_span: {\"source_cache\": \"artifacts/molybdenum-research/35192225.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"ab9083746ef775c196770d3f4d0208378f1796abf1d7056fe5b23f60421032d4\", \"start_char\": 0, \"end_char\": 1812, \"text_sha256\": \"ab9083746ef775c196770d3f4d0208378f1796abf1d7056fe5b23f60421032d4\"}\n[mo-p35192225] Molybdenum cofactor deficiency: A natural history. (2022). https://pubmed.ncbi.nlm.nih.gov/35192225/ DOI: 10.1002/jimd.12488","model_system":"Retrospective natural history in 58 patients; prospective biomarkers in 21 survivors","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [mo-p35192225] Molybdenum cofactor deficiency: A natural history. (2022). https://pubmed.ncbi.nlm.nih.gov/35192225/ DOI: 10.1002/jimd.12488","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"1aa6da60-8284-5252-8dd9-ac2250d5ced5","stable_key":"import-dc8975b1-95ff-5d9b-be17-a1c04610cca7","title":"Molybdenum: cofactor assembly, sulfur metabolism 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":"143147eb9ac7fe750bdd33bb50d7773bc0cd49cc94faf219aebce3c3d760dd8f","revision_id":"90c2239d-290b-5e16-815a-f94d30569ebd","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}