{"orpha":79253,"name":"Mild phenylketonuria","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Mild PKU","Variant PKU","Variant phenylketonuria","mPKU"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Phenylketonuria","url":"https://raremap.alftech.space/d/ORPHA-79253/","orphanet_url":"https://www.orpha.net/en/disease/detail/79253","names":{"fr":{"name":"Phénylcétonurie modérée","synonyms":["PCU atypique","PCU modérée","PKU modérée","Phénylcétonurie atypique","Variant PKU","mPCU","mPKU"]},"de":{"name":"Phenylketonurie, milde","synonyms":["PKU, milde","Phenylketonurie, Variante","mPKU"]},"es":{"name":"Fenilcetonuria leve","synonyms":["PKU leve","Variante de la PKU","Variante de la fenilcetonuria","mPKU"]},"it":{"name":"Fenilchetonuria lieve","synonyms":["PKU lieve","Variante della PKU","Variante della fenilchetonuria","mPKU"]},"nl":{"name":"Milde fenylketonurie","synonyms":["Afwijkende PKU","Afwijkende fenylketonurie","Milde PKU","mPKU"]},"pt":{"name":"Fenilcetonúria ligeira","synonyms":["PKU ligeira","Variante da PKU","Variante da fenilcetonúria"]},"pl":{"name":"Fenyloketonuria łagodna","synonyms":["mPKU","PKU łagodna","Wariant fenylketonurii","Wariant PKU"]},"cs":{"name":"Mírná fenylketonurie","synonyms":["Mírná PKU","Variantní PKU","Variantní fenylketonurie","mPKU"]},"uk":{"name":"Легка фенілкетонурія","synonyms":["Легка форма ФКУ","mPKU","Варіантна фенілкетонурії","Варіантна ФКУ"],"definition":"A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day."},"zh":{"name":"轻型苯丙酮尿症","synonyms":["变异型苯丙酮尿症"]},"tr":{"name":"Hafif fenilketonüri","synonyms":["mPKU","Hafif PKU","Varyant PKU","Varyant fenilketonüri"]}},"xrefs":[{"source":"MONDO","code":"0019258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680203","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":716,"name":"Phenylketonuria"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}