{"id":"9e04af7c-7d64-5929-9a97-cdcf55beb999","stable_key":"649e861b-265a-5912-bc36-3a73e53ef892:l-serine-phgdh-deficiency","predicate":"when_deficient_lowers","statement":"Patients with inherited PHGDH deficiency had low plasma and cerebrospinal-fluid serine, variably low glycine, microcephaly, seizures and severe developmental impairment.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"b4aa6566-38dc-5610-8e5d-45eeecdb6d84","mechanism_event_label":"An internal synthesis defect can create a clinically important shortage.","subject":{"id":"bde7376b-95ef-5b84-8789-353ec30d5b9b","slug":"phgdh","display_name":"Human phosphoglycerate dehydrogenase / PHGDH","entity_type_key":"protein"},"object":{"id":"c882cd0b-9d83-5b07-bd1c-fe4d45657dcb","slug":"l-serine","display_name":"L-Serine","entity_type_key":"small_molecule"},"evidence_count":1,"mechanism_event":{"id":"b4aa6566-38dc-5610-8e5d-45eeecdb6d84","stable_key":"649e861b-265a-5912-bc36-3a73e53ef892:l-serine-phgdh-deficiency-event","event_type":"observed_relationship","label":"An internal synthesis defect can create a clinically important shortage.","description":"Patients with inherited PHGDH deficiency had low plasma and cerebrospinal-fluid serine, variably low glycine, microcephaly, seizures and severe developmental impairment.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"bde7376b-95ef-5b84-8789-353ec30d5b9b","slug":"phgdh","display_name":"Human phosphoglycerate dehydrogenase / PHGDH","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"c882cd0b-9d83-5b07-bd1c-fe4d45657dcb","slug":"l-serine","display_name":"L-Serine","entity_type_key":"small_molecule"},"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":""}]},"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":"Five-patient treatment follow-up in a rare inherited disorder.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"This is not evidence that ordinary low dietary intake causes the same syndrome.","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":"An internal synthesis defect can create a clinically important shortage.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. · 2002 · https://pubmed.ncbi.nlm.nih.gov/12118526/ · DOI 10.1023/a:1015624726822","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":"85add157-a1ed-5563-9b39-ae9808a5633c","evidence_kind":"source_excerpt","locator":"Lines 86-92","start_line":86,"end_line":92,"excerpt":"## l-serine-phgdh-deficiency\nAn internal synthesis defect can create a clinically important shortage.\nPatients with inherited PHGDH deficiency had low plasma and cerebrospinal-fluid serine, variably low glycine, microcephaly, seizures and severe developmental impairment.\nModel: Five-patient treatment follow-up in a rare inherited disorder.\nLimitations: This is not evidence that ordinary low dietary intake causes the same syndrome.\nEvidence access: Primary abstract\nCongenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids. · 2002 · https://pubmed.ncbi.nlm.nih.gov/12118526/ · DOI 10.1023/a:1015624726822","model_system":"Five-patient treatment follow-up in a rare inherited disorder.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; evidence access and experimental limitations specified.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"70bcf57a-36bb-563f-9073-2d616e5f155a","stable_key":"import-649e861b-265a-5912-bc36-3a73e53ef892","title":"L-Serine: synthesis, one-carbon metabolism, lipids and cross-nutrient mechanisms (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text.","file_path":"","sha256":"22a750ce2b94f8607268c58322c48c4f0468f403b72a4008307538a6e5ff86d5","revision_id":"c1d6a7e1-9558-5bc6-9e3b-7080c26d3dbc","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}