{"id":"5aba8922-5df6-5837-b2f8-51aafce6a7ea","stable_key":"c9aa15a1-8ba2-5913-b2dd-372af304bf87:fast-synthesis-defects","predicate":"machinery_failure_associated_with","statement":"Four patients with HMGCS2 or HMGCL deficiency had decompensation with hypoglycemia and absent urinary ketones.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"72a9aa90-42bc-518c-a65c-f01fb7cc1eb2","mechanism_event_label":"Some bodies cannot make adequate backup fuel under lipolytic stress.","subject":{"id":"399b71e9-675f-5044-b2f3-7bcda41aaccb","slug":"ketogenesis","display_name":"Ketone-body production","entity_type_key":"cellular_process"},"object":{"id":"316577fe-102e-5b9a-a4ff-80cd644819e1","slug":"hypoketotic-hypoglycemia","display_name":"Hypoglycemia with inadequate ketone availability","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"72a9aa90-42bc-518c-a65c-f01fb7cc1eb2","stable_key":"c9aa15a1-8ba2-5913-b2dd-372af304bf87:fast-synthesis-defects-event","event_type":"observed_relationship","label":"Some bodies cannot make adequate backup fuel under lipolytic stress.","description":"Four patients with HMGCS2 or HMGCL deficiency had decompensation with hypoglycemia and absent urinary ketones.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"399b71e9-675f-5044-b2f3-7bcda41aaccb","slug":"ketogenesis","display_name":"Ketone-body production","entity_type_key":"cellular_process"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"316577fe-102e-5b9a-a4ff-80cd644819e1","slug":"hypoketotic-hypoglycemia","display_name":"Hypoglycemia with inadequate ketone availability","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"d005a809-2f5f-5cb1-99df-9c54d1b1b41a","slug":"hmgcs2","display_name":"Human mitochondrial HMG-CoA synthase / HMGCS2","entity_type_key":"protein"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"d2661983-120d-5a42-8ba3-454ab4727ed7","slug":"hmgcl","display_name":"Human HMG-CoA lyase / HMGCL","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":"Four-patient clinical, biochemical and molecular case series.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Distinct inherited defects; absence of urinary ketones is the reported observation.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Fasting physiological-state collection; human protocols, cellular deprivation and refeeding are distinguished.","comparator":null,"unit":null,"notes":"","entity":{"slug":"fasting","display_name":"Fasting / abstention from energy intake","entity_type_key":"cellular_process"}},{"dimension":"plain_language","value_text":"Some bodies cannot make adequate backup fuel under lipolytic stress.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients. · 2024 · https://pubmed.ncbi.nlm.nih.gov/38567177/ · DOI 10.1055/s-0042-1749362","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; 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