{"id":"c27c744b-a1d0-5a82-9733-16e8bc278f3e","stable_key":"44737fa3-b335-53f4-a644-b9878d4416ac:creatine-gamt-combination-outcomes","predicate":"in_combination_associated_with_improvement_in","statement":"In the GAMT registry, clinical severity improved in 13 patients, 11 became seizure-free and movement disorder resolved in four during treatment combinations.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"887b0e01-209f-50f6-9e09-bced6e35fd57","mechanism_event_label":"The registry supports the importance of treating this disorder, but cannot tell us which component caused each improvement.","subject":{"id":"9f5df558-ed3d-5cda-b5ca-0f90f7aa6a8c","slug":"creatine","display_name":"Creatine","entity_type_key":"small_molecule"},"object":{"id":"db00ef2c-6f22-5133-a35e-db1959ed8f09","slug":"gamt-associated-neurological-impairment","display_name":"Neurological impairment associated with GAMT deficiency","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"887b0e01-209f-50f6-9e09-bced6e35fd57","stable_key":"44737fa3-b335-53f4-a644-b9878d4416ac:creatine-gamt-combination-outcomes-event","event_type":"observed_intervention","label":"The registry supports the importance of treating this disorder, but cannot tell us which component caused each improvement.","description":"In the GAMT registry, clinical severity improved in 13 patients, 11 became seizure-free and movement disorder resolved in four during treatment combinations.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"c715e48e-42db-5fac-b4a4-c1285a68d085","slug":"ornithine","display_name":"L-Ornithine","entity_type_key":"small_molecule"},"role":"frequent_cointervention","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"eeca3c9e-7749-5677-b7bd-37fe8f7c228d","slug":"arginine","display_name":"L-Arginine","entity_type_key":"small_molecule"},"role":"restricted_in_many_patients","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"9f5df558-ed3d-5cda-b5ca-0f90f7aa6a8c","slug":"creatine","display_name":"Creatine","entity_type_key":"small_molecule"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"db00ef2c-6f22-5133-a35e-db1959ed8f09","slug":"gamt-associated-neurological-impairment","display_name":"Neurological impairment associated with GAMT deficiency","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/creatine-research/29506905.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"e443eeda80f65e6e7cd3b0b07a4a86b5f11b6b4feef6201ce97a99bc27af0b66\", \"start_char\": 0, \"end_char\": 1609, \"text_sha256\": \"e443eeda80f65e6e7cd3b0b07a4a86b5f11b6b4feef6201ce97a99bc27af0b66\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"International retrospective registry","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"All received creatine; 18 ornithine and 15 arginine/protein restriction","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Nonrandomized combination treatment and variable diagnosis timing prevent attribution of improvements to a single component.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Creatine research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"creatine","display_name":"Creatine","entity_type_key":"small_molecule"}},{"dimension":"organism","value_text":"22 people with GAMT deficiency","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The registry supports the importance of treating this disorder, but cannot tell us which component caused each improvement.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[creatine-p29506905] Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. (2018). https://pubmed.ncbi.nlm.nih.gov/29506905/ DOI: 10.1016/j.ejpn.2018.02.007","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Clinical outcomes","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":"1d8ff236-4bf7-5618-a622-6142fada5699","evidence_kind":"source_excerpt","locator":"Lines 893-904","start_line":893,"end_line":904,"excerpt":"### creatine-gamt-combination-outcomes\nIn the GAMT registry, clinical severity improved in 13 patients, 11 became seizure-free and movement disorder resolved in four during treatment combinations.\nCondition category: machinery_impairment\nnutrient_topic: Creatine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The registry supports the importance of treating this disorder, but cannot tell us which component caused each improvement.\norganism: 22 people with GAMT deficiency\ntissue_or_cell_type: Clinical outcomes\nexperimental_model: International retrospective registry\nlimitations: Nonrandomized combination treatment and variable diagnosis timing prevent attribution of improvements to a single component.\nexposure: All received creatine; 18 ornithine and 15 arginine/protein restriction\nevidence_span: {\"source_cache\": \"artifacts/creatine-research/29506905.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"e443eeda80f65e6e7cd3b0b07a4a86b5f11b6b4feef6201ce97a99bc27af0b66\", \"start_char\": 0, \"end_char\": 1609, \"text_sha256\": \"e443eeda80f65e6e7cd3b0b07a4a86b5f11b6b4feef6201ce97a99bc27af0b66\"}\n[creatine-p29506905] Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. 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