{"orpha":716,"name":"Phenylketonuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PKU"],"definition":"A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-716/","orphanet_url":"https://www.orpha.net/en/disease/detail/716","names":{"fr":{"name":"Phénylcétonurie","synonyms":["PCU","PKU"],"definition":"Erreur innée rare du métabolisme des acides aminés, caractérisée par un taux élevé de phénylalanine dans le sang et par un faible taux ou l'absence de l'enzyme phénylalanine hydroxylase. Si elle n'est pas détectée à temps ou si elle n'est pas traitée, la maladie se manifeste par une déficience intellectuelle pouvant aller de légère à sévère."},"de":{"name":"Phenylketonurie","synonyms":["PKU"],"definition":"Eine seltene angeborene Störung des Aminosäurestoffwechsels, die durch erhöhte Phenylalaninwerte im Blut und niedrige oder fehlende Werte des Enzyms Phenylalaninhydroxylase gekennzeichnet ist. Wird die Störung nicht frühzeitig erkannt oder unbehandelt gelassen, äußert sie sich in einer leichten bis schweren Intelligenzminderung."},"es":{"name":"Fenilcetonuria","synonyms":["PKU"],"definition":"Es un error congénito poco frecuente del metabolismo de los aminoácidos caracterizado por un aumento de fenilalanina en sangre y niveles bajos o ausencia de la enzima fenilalanina hidroxilasa. Sin diagnóstico precoz o sin tratamiento, el trastorno se manifiesta con discapacidad intelectual de leve a grave."},"it":{"name":"Fenilchetonuria","synonyms":["PKU"],"definition":"La fenilchetonuria (PKU) è un errore congenito del metabolismo degli aminoacidi, caratterizzato da livelli elevati di fenilalanina nel sangue e livelli bassi o assenza dell'enzima fenilalanina idrossilasi. Se non diagnosticata precocemente e trattata, la malattia causa un ritardo mentale lieve-grave."},"nl":{"name":"Fenylketonurie","synonyms":["PKU"],"definition":"Een zeldzaam aangeboren defect van aminozuurmetabolisme, gekarakteriseerd door verhoogd gehalte van fenylalanine in bloed en lage gehaltes of afwezigheid van het enzym fenylalaninehydroxylase. Zonder vroege detectie of behandeling manifesteert de aandoening zich met milde tot ernstige verstandelijke beperking."},"pt":{"name":"Fenilcetonúria","synonyms":["PKU"],"definition":"A Fenilcetonúria (PKU) é a doença congénita do metabolismo dos aminoácidos mais comum e é caracterizada por uma deficiência mental leve a grave em doentes não tratados."},"pl":{"name":"Fenyloketonuria","synonyms":["Niedobór hydroksylazy fenyloalaninowej","Niedobór PAH","PKU"],"definition":"Rzadka wrodzona wada metabolizmu aminokwasów charakteryzująca się podwyższonym poziomem fenyloalaniny we krwi i niskim poziomem lub brakiem enzymu hydroksylazy fenyloalaniny. Jeśli choroba nie zostanie wcześnie wykryta lub nie jest leczona objawia się łagodną lub ciężką niepełnosprawnością intelektualną."},"cs":{"name":"Fenylketonurie","synonyms":["Deficit PAH","PKU","Deficit fenylalaninhydroxylázy"]},"uk":{"name":"Фенілкетонурія","synonyms":["Дефіцит PAH","Дефіцит фенілаланінгідроксилази","ФКУ"],"definition":"A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability."},"zh":{"name":"苯丙酮尿症","synonyms":["苯丙氨酸羟化酶缺乏症"]},"tr":{"name":"Fenilketonüri","synonyms":["PKU","PAH eksikliği","Fenilalanin hidroksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"261600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"E70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"444122923"},{"source":"MONDO","code":"0009861","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010661","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0031485","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7383","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10034872","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79253,"name":"Mild phenylketonuria","status":"inactive"},{"type":"Moved to","orpha":79254,"name":"Classic phenylketonuria","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":708881,"name":"Phenylalanine hydroxylase deficiency","classifications":[150,156,181]}],"children":[{"orpha":293284,"name":"Tetrahydrobiopterin-responsive phenylketonuria","type":"Clinical subtype"},{"orpha":708895,"name":"Tetrahydrobiopterin-unresponsive phenylketonuria","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PAH","name":"phenylalanine hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12409276[PMID]","hgnc":"8582","ensembl":"ENSG00000171759","omim":"612349","loci":["12q23.2"],"via":{"orpha":293284,"name":"Tetrahydrobiopterin-responsive phenylketonuria"}},{"symbol":"PAH","name":"phenylalanine hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29025426[PMID]","hgnc":"8582","ensembl":"ENSG00000171759","omim":"612349","loci":["12q23.2"],"via":{"orpha":708895,"name":"Tetrahydrobiopterin-unresponsive phenylketonuria"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"France","status":"Validated","source":"11641035[PMID]_17616847[PMID]_[EXPERT]_Haute Autorité de Santé 2010[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.99,"area":"France","status":"Validated","source":"32668217[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 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(29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}