{"id":"1314b2c1-b702-5437-895b-7c865f8dda62","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-pcbd-magnesium","predicate":"is_genetically_linked_to","statement":"Two of three adults with homozygous PCBD1 mutations had hypomagnesemia with renal magnesium loss.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"97f62bc4-8789-5f95-b61c-cd5286ad2d3f","mechanism_event_label":"A genetic defect can connect abnormal phenylalanine handling with magnesium wasting.","subject":{"id":"a69cefc1-302d-5b87-8499-ecbe52b4059e","slug":"pcbd1","display_name":"Human pterin-4-alpha-carbinolamine dehydratase / PCBD1","entity_type_key":"protein"},"object":{"id":"a298b414-0e07-568d-a469-d8aa3e8b8c14","slug":"urinary-magnesium-excretion","display_name":"Urinary magnesium excretion","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"97f62bc4-8789-5f95-b61c-cd5286ad2d3f","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-pcbd-magnesium-event","event_type":"observed_relationship","label":"A genetic defect can connect abnormal phenylalanine handling with magnesium wasting.","description":"Two of three adults with homozygous PCBD1 mutations had hypomagnesemia with renal magnesium loss.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"a69cefc1-302d-5b87-8499-ecbe52b4059e","slug":"pcbd1","display_name":"Human pterin-4-alpha-carbinolamine dehydratase / PCBD1","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"a298b414-0e07-568d-a469-d8aa3e8b8c14","slug":"urinary-magnesium-excretion","display_name":"Urinary magnesium excretion","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"190407ad-0219-54b5-b05f-7c75f3895ca6","slug":"l-phenylalanine","display_name":"L-Phenylalanine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"bff427ab-35f9-59c2-bb24-fd5953bbaec2","slug":"magnesium-ion","display_name":"Mg2+","entity_type_key":"ion"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"623a99ab-787c-5d78-8072-72cfcd82008e","slug":"serum-magnesium-concentration","display_name":"Serum magnesium concentration","entity_type_key":"cellular_process"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":4,"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":"Small human case series, three adults with homozygous PCBD1 mutations.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Two also had MODY-like diabetes regardless of magnesium status; neither finding establishes that phenylalanine supplements cause or correct the disorder.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Phenylalanine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"l-phenylalanine","display_name":"L-Phenylalanine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A genetic defect can connect abnormal phenylalanine handling with magnesium wasting.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337","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":"0c020a1a-fbc8-5ded-97f1-82914766ae68","evidence_kind":"source_excerpt","locator":"Lines 94-100","start_line":94,"end_line":100,"excerpt":"## l-phenylalanine-pcbd-magnesium\nA genetic defect can connect abnormal phenylalanine handling with magnesium wasting.\nTwo of three adults with homozygous PCBD1 mutations had hypomagnesemia with renal magnesium loss.\nModel: Small human case series, three adults with homozygous PCBD1 mutations.\nLimitations: Two also had MODY-like diabetes regardless of magnesium status; neither finding establishes that phenylalanine supplements cause or correct the disorder.\nEvidence access: Primary abstract\nMutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337","model_system":"Small human case series, three adults with homozygous PCBD1 mutations.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; 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