{"id":"7fcf0933-6f31-5bf2-90c8-48a30766911c","stable_key":"be889add-cec8-500b-be89-676431432a70:mn-clin-zip8-gal-uridine","predicate":"improved","statement":"Galactose plus uridine improved patient 2’s transferrin isoform pattern within 14 days.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"fc27237e-e1c4-5c70-befd-8c3600aa9ffc","mechanism_event_label":"A combined substrate-support treatment improved the measured sugar pattern.","subject":{"id":"0ac0e890-d3a0-52d3-b48c-6a48c323c05b","slug":"galactose-uridine-coadministration","display_name":"D-galactose and uridine coadministration","entity_type_key":"cellular_process"},"object":{"id":"7781d1ed-44c5-5dc4-9a18-d6ff7d08cb98","slug":"transferrin-glycosylation","display_name":"Transferrin glycosylation","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"fc27237e-e1c4-5c70-befd-8c3600aa9ffc","stable_key":"be889add-cec8-500b-be89-676431432a70:mn-clin-zip8-gal-uridine-event","event_type":"observed_intervention","label":"A combined substrate-support treatment improved the measured sugar pattern.","description":"Galactose plus uridine improved patient 2’s transferrin isoform pattern within 14 days.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"752497bc-783a-54f4-b7dc-72e48f2661fe","slug":"d-galactose","display_name":"D-Galactose","entity_type_key":"small_molecule"},"role":"coadministered_substrate","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"f66c5604-f6fb-5a7d-b79b-0797520ce005","slug":"uridine","display_name":"Uridine","entity_type_key":"small_molecule"},"role":"coadministered_substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"059eea33-6e24-58ca-970f-014e2e65df77","slug":"slc39a8","display_name":"Human ZIP8 (SLC39A8)","entity_type_key":"protein"},"role":"affected_protein","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"0ac0e890-d3a0-52d3-b48c-6a48c323c05b","slug":"galactose-uridine-coadministration","display_name":"D-galactose and uridine coadministration","entity_type_key":"cellular_process"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"7781d1ed-44c5-5dc4-9a18-d6ff7d08cb98","slug":"transferrin-glycosylation","display_name":"Transferrin glycosylation","entity_type_key":"cellular_process"},"role":"target","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":"cross_nutrient","value_text":"D-Galactose (coadministered_substrate); Uridine (coadministered_substrate); Human ZIP8 (SLC39A8) (affected_protein)","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/manganese-clinical-sources/riley2017.abstract.txt\", \"locator\": \"Indexed primary abstract\", \"file_sha256\": \"31e4e33ec5601d443fb2d469b2e2c7d1fd89c611db0f41938b43007952d0f005\", \"start_char\": 0, \"end_char\": 1732, \"text_sha256\": \"31e4e33ec5601d443fb2d469b2e2c7d1fd89c611db0f41938b43007952d0f005\", \"text_characters\": 1732}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Two sisters with homozygous SLC39A8 p.Cys113Ser","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Respiratory-chain tests in patient 1; manganese and transferrin measurements and galactose-plus-uridine response in patient 2.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Measurements were not performed in both sisters interchangeably. The proposed SOD2 explanation was not directly demonstrated; manganese had only recently been added and cannot explain the already observed 14-day galactose/uridine response.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Manganese research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"manganese","display_name":"Manganese","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A combined substrate-support treatment improved the measured sugar pattern.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[mn-clin-riley2017] A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. (2017). https://pubmed.ncbi.nlm.nih.gov/27995398/ DOI: 10.1007/s10545-016-0010-6","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Patient-specific liver, muscle and blood measurements","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":"bb1e29e6-d0a8-5bfa-8abb-df459bbbf828","evidence_kind":"source_excerpt","locator":"Lines 1230-1242","start_line":1230,"end_line":1242,"excerpt":"### mn-clin-zip8-gal-uridine\nGalactose plus uridine improved patient 2’s transferrin isoform pattern within 14 days.\nCondition category: machinery_impairment\nnutrient_topic: Manganese research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A combined substrate-support treatment improved the measured sugar pattern.\norganism: Homo sapiens\ntissue_or_cell_type: Patient-specific liver, muscle and blood measurements\nexperimental_model: Two sisters with homozygous SLC39A8 p.Cys113Ser\nlimitations: Measurements were not performed in both sisters interchangeably. The proposed SOD2 explanation was not directly demonstrated; manganese had only recently been added and cannot explain the already observed 14-day galactose/uridine response.\nexposure: Respiratory-chain tests in patient 1; manganese and transferrin measurements and galactose-plus-uridine response in patient 2.\ncross_nutrient: D-Galactose (coadministered_substrate); Uridine (coadministered_substrate); Human ZIP8 (SLC39A8) (affected_protein)\nevidence_span: {\"source_cache\": \"artifacts/manganese-clinical-sources/riley2017.abstract.txt\", \"locator\": \"Indexed primary abstract\", \"file_sha256\": \"31e4e33ec5601d443fb2d469b2e2c7d1fd89c611db0f41938b43007952d0f005\", \"start_char\": 0, \"end_char\": 1732, \"text_sha256\": \"31e4e33ec5601d443fb2d469b2e2c7d1fd89c611db0f41938b43007952d0f005\", \"text_characters\": 1732}\n[mn-clin-riley2017] A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. (2017). https://pubmed.ncbi.nlm.nih.gov/27995398/ DOI: 10.1007/s10545-016-0010-6","model_system":"Two sisters with homozygous SLC39A8 p.Cys113Ser","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [mn-clin-riley2017] A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. (2017). https://pubmed.ncbi.nlm.nih.gov/27995398/ DOI: 10.1007/s10545-016-0010-6","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"03224387-8a73-5b4f-906d-9f0be6625b7f","stable_key":"import-be889add-cec8-500b-be89-676431432a70","title":"Manganese: enzyme cofactors, glycosylation, transport 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":"f029ee5a1133a4f296047f06a6f0178deb9fd02e8d9707bc285bbe0f4e08fcb5","revision_id":"a77068c1-5a13-5aa9-bbac-d1cff6d34f15","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}