{"id":"6f267ef5-cb8d-5a27-ab09-03b864977cba","stable_key":"649e861b-265a-5912-bc36-3a73e53ef892:l-serine-psat-early-treatment","predicate":"is_associated_with","statement":"Two siblings received serine plus glycine at different ages: the index child treated from 11 weeks died at seven months, whereas the sibling treated from birth had a normal reported outcome at age three.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"d000c217-8424-5e2c-8f4a-50eb127490ce","mechanism_event_label":"Timing may matter when early development depends on local amino-acid supply.","subject":{"id":"c882cd0b-9d83-5b07-bd1c-fe4d45657dcb","slug":"l-serine","display_name":"L-Serine","entity_type_key":"small_molecule"},"object":{"id":"37973303-e48e-5ac1-bbca-48dc10039fed","slug":"human-psat1-treatment-timing","display_name":"Clinical outcomes with different treatment timing in PSAT1 deficiency","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"d000c217-8424-5e2c-8f4a-50eb127490ce","stable_key":"649e861b-265a-5912-bc36-3a73e53ef892:l-serine-psat-early-treatment-event","event_type":"observed_relationship","label":"Timing may matter when early development depends on local amino-acid supply.","description":"Two siblings received serine plus glycine at different ages: the index child treated from 11 weeks died at seven months, whereas the sibling treated from birth had a normal reported outcome at age three.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"c882cd0b-9d83-5b07-bd1c-fe4d45657dcb","slug":"l-serine","display_name":"L-Serine","entity_type_key":"small_molecule"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"37973303-e48e-5ac1-bbca-48dc10039fed","slug":"human-psat1-treatment-timing","display_name":"Clinical outcomes with different treatment timing in PSAT1 deficiency","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"2b507258-430c-51fe-9fd2-e510c2c197a9","slug":"glycine","display_name":"Glycine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"a549bab7-965e-57f9-99b3-e8dfcb535af5","slug":"psat1","display_name":"Human phosphoserine aminotransferase / PSAT1","entity_type_key":"protein"},"role":"context_participant","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_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Two siblings; reported regimens included serine 500 mg/kg/day and glycine 200 mg/kg/day.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Case comparison is not randomized proof, a universal rescue, or a dosing recommendation.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Serine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"l-serine","display_name":"L-Serine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"Timing may matter when early development depends on local amino-acid supply.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. · 2007 · https://pubmed.ncbi.nlm.nih.gov/17436247/ · DOI 10.1086/517888","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":"19d01a31-a969-593b-8598-e12ddae55e76","evidence_kind":"source_excerpt","locator":"Lines 110-116","start_line":110,"end_line":116,"excerpt":"## l-serine-psat-early-treatment\nTiming may matter when early development depends on local amino-acid supply.\nTwo siblings received serine plus glycine at different ages: the index child treated from 11 weeks died at seven months, whereas the sibling treated from birth had a normal reported outcome at age three.\nModel: Two siblings; reported regimens included serine 500 mg/kg/day and glycine 200 mg/kg/day.\nLimitations: Case comparison is not randomized proof, a universal rescue, or a dosing recommendation.\nEvidence access: Primary abstract\nPhosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. · 2007 · https://pubmed.ncbi.nlm.nih.gov/17436247/ · DOI 10.1086/517888","model_system":"Two siblings; reported regimens included serine 500 mg/kg/day and glycine 200 mg/kg/day.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; 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