{"id":"8fa196a3-004e-5d35-9a37-086877facce2","stable_key":"44737fa3-b335-53f4-a644-b9878d4416ac:creatine-gamt-replacement-response","predicate":"improved_reported","statement":"The reported GAMT-deficiency syndrome was responsive to oral creatine substitution.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"fd28401e-8365-583d-a2c6-53def1774bdf","mechanism_event_label":"Some manifestations improved with replacement in these cases; precursor accumulation remains a separate issue.","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":"fd28401e-8365-583d-a2c6-53def1774bdf","stable_key":"44737fa3-b335-53f4-a644-b9878d4416ac:creatine-gamt-replacement-response-event","event_type":"observed_intervention","label":"Some manifestations improved with replacement in these cases; precursor accumulation remains a separate issue.","description":"The reported GAMT-deficiency syndrome was responsive to oral creatine substitution.","status":"provisional","compartment":null,"participants":[{"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":0,"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":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/creatine-research/8651275.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"d6999ce02dd6012eefd5981a91374d6c933af0924d5e82b1447fd322e8f211de\", \"start_char\": 0, \"end_char\": 706, \"text_sha256\": \"d6999ce02dd6012eefd5981a91374d6c933af0924d5e82b1447fd322e8f211de\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Biochemical diagnosis and treatment observations","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"GAMT deficiency with oral creatine substitution","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Small case series; biochemical and neurological responses are not a universal prognosis.","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":"Two human children","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Some manifestations improved with replacement in these cases; precursor accumulation remains a separate issue.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[creatine-p8651275] Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. (1996). https://pubmed.ncbi.nlm.nih.gov/8651275/","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Brain spectroscopy, blood and liver enzyme assay","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":"130908eb-0b63-5c71-a2b1-64438c2535f1","evidence_kind":"source_excerpt","locator":"Lines 880-891","start_line":880,"end_line":891,"excerpt":"### creatine-gamt-replacement-response\nThe reported GAMT-deficiency syndrome was responsive to oral creatine substitution.\nCondition category: machinery_impairment\nnutrient_topic: Creatine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Some manifestations improved with replacement in these cases; precursor accumulation remains a separate issue.\norganism: Two human children\ntissue_or_cell_type: Brain spectroscopy, blood and liver enzyme assay\nexperimental_model: Biochemical diagnosis and treatment observations\nlimitations: Small case series; biochemical and neurological responses are not a universal prognosis.\nexposure: GAMT deficiency with oral creatine substitution\nevidence_span: {\"source_cache\": \"artifacts/creatine-research/8651275.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"d6999ce02dd6012eefd5981a91374d6c933af0924d5e82b1447fd322e8f211de\", \"start_char\": 0, \"end_char\": 706, \"text_sha256\": \"d6999ce02dd6012eefd5981a91374d6c933af0924d5e82b1447fd322e8f211de\"}\n[creatine-p8651275] Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 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