{"orpha":293284,"name":"Tetrahydrobiopterin-responsive phenylketonuria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BH4-responsive PKU","BH4-responsive phenylketonuria","Tetrahydrobiopterin-responsive PKU"],"definition":"A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293284/","orphanet_url":"https://www.orpha.net/en/disease/detail/293284","names":{"fr":{"name":"Phénylcétonurie sensible à la tétrahydrobioptérine","synonyms":["PCU BH4 sensible","PKU BH4 sensible","Phénylcétonurie BH4 sensible","Phénylcétonurie sensible au BH4"],"definition":"Forme de phénylcétonurie (PCU), erreur innée du métabolisme des acides aminés, caractérisée par des symptômes légers ou modérés de PCU parmi lesquels : fonction cognitive détériorée, épilepsie, troubles du comportement et du développement, et diminution marquée des concentrations élevées de phénylalanine après administration, par voie orale, de tétrahydrobioptérine (BH4), un cofacteur essentiel de la phénylalanine hydroxylase."},"de":{"name":"Tetrahydrobiopterin-responsive Phenylketonurie","synonyms":["BH4-responsive PKU","BH4-responsive Phenylketonurie","Tetrahydrobiopterin-responsive PKU"],"definition":"Die Tetrahydrobiopterin-responsive Hyperphenylalaninämie/Phenylketonurie (BH4-responsive HPA/PKU) ist eine Form der Phenylketonurie, einem angeborenen Aminosäuren-Stoffwechseldefekt. Sie ist gekennzeichnet durch leichte bis moderate Symptome einer PKU, mit eingeschränkten kognitiven Leistungen, Krampfanfällen und mit Verhaltens- und Entwicklungsstörungen. Nach oraler Belastung mit Tetrahydrobiopterin (BH4; Sapropterin-Dihydrochlorid), einem essenziellen Kofaktor der Phenylalanin-Hydroxylase, kommt es zu ausgeprägter Abnahme oder Normalisierung der erhöhten Phenylalanin-Konzentrationen."},"es":{"name":"Fenilcetonuria sensible a la tetrahidrobiopterina","synonyms":["Fenilcetonuria sensible a BH4","PKU sensible a BH4","PKU sensible a la tetrahidrobiopterina"],"definition":"Es una forma de fenilcetonuria (PKU), un error congénito del metabolismo de los aminoácidos, caracterizada por síntomas leves o moderados de PKU que incluyen afectación de la función cognitiva, crisis y trastornos de la conducta y del desarrollo psicomotor, y una marcada reducción de las elevadas concentraciones de fenilalanina tras la sobrecarga oral con tetrahidrobiopterina (BH4), un cofactor esencial de la fenilalanina hidroxilasa."},"it":{"name":"Fenilchetonuria sensibile alla tetraidrobiopterina","synonyms":["BH4 sensibile a PKU","Fenilchetonuria sensibile a BH4","PKU sensibile alla tetraidrobiopterina"],"definition":"Si tratta di una forma di fenilchetonuria (PKU), un errore congenito del metabolismo degli aminoacidi, caratterizzata dai sintomi lievi-moderati della PKU, con compromissione della funzione cognitiva, crisi epilettiche e anomalie del comportamento e dello sviluppo, e da marcata riduzione delle concentrazioni elevate di fenilalanina dopo la somministrazione orale di tetraidrobiopterina (BH4), un cofattore essenziale della fenilalanina idrossilasi."},"nl":{"name":"Tetrahydrobiopterineresponsieve fenylketonurie","synonyms":["BH4-responsieve PKU","BH4-responsieve fenylketonurie","Tetrahydrobiopterineresponsieve PKU"],"definition":"Een vorm van fenylketonurie (PKU), een aangeboren defect van aminozuurmetabolisme, gekarakteriseerd door milde tot matige symptomen van PKU, waaronder cognitieve functiestoornis, insulten, en gedrags- en ontwikkelingsstoornissen, en een uitgesproken reductie van verhoogde concentraties van fenylalanine na orale belasting met tetrahydrobiopterine (BH4), een essentiële cofactor van fenylalaninehydroxylase."},"pt":{"name":"Hiperfenilalaninemia/fenilcetonúria sensível à tetrahidrobiopterina","synonyms":["HPA/PKU sensível à BH4","HPA/PKU sensível à tetrahidrobiopterina","Hiperfenilalaninemia/fenilcetonúria sensível à BH4"]},"pl":{"name":"Fenyloketonuria wrażliwa na tetrahydrobiopterynę","synonyms":["Hiperfenyloalaninemia/fenyloketonuria wrażliwa na BH4","HPA/PKU wrażliwa na BH4","HPA/PKU wrażliwa na tetrahydrobiopterynę"]},"cs":{"name":"Hyperfenylalaninemie/fenylketonurie reagující na tetrahydrobiopterin","synonyms":["HPA/PKU reagující na BH4","Hyperfenylalaninemie/fenylketonurie reagující na BH4","HPA/PKU reagující na tetrahydrobiopterin"]},"uk":{"name":"Тетрагідробіоптерин-чутлива гіперфенілаланінемія/фенілкетонурія","synonyms":["BH4-чутлива ГФА/ФКУ","BH4-реактивна гіперфенілаланінемія/фенілкетонурія","Тетрагідробіоптерин-чутливий HPA/PKU"],"definition":"A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase."},"zh":{"name":"四氢生物蝶呤敏感性高苯丙氨酸血症/苯丙酮尿症","synonyms":["四氢生物蝶呤反应性高苯丙氨酸血症/苯丙酮尿症"],"definition":"四氢生物蝶呤反应性高苯丙氨酸血症/苯丙酮尿症（BH4反应性高苯丙氨酸血症/苯丙酮尿症）是一种先天性氨基酸代谢异常的苯丙酮尿症（PKU，见本术语），其特征是轻中度PKU症状，包括认知功能障碍、惊厥发作等，行为和发育障碍，口服四氢生物蝶呤（BH4；盐酸沙丙蝶呤）后升高的苯丙氨酸浓度明显下降至正常。"},"tr":{"name":"Tetrahidrobiopterine duyarlı hiperfenilalaninemi / fenilketonüri","synonyms":["BH4'e-duyarlı HPA / PKU","Tetrahidrobiyopterine duyarlı HPA / PKU","BH4'e duyarlı hiperfenilalaninemi / fenilketonüri"]}},"xrefs":[{"source":"OMIM","code":"261600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017389","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679945","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":716,"name":"Phenylketonuria","classifications":[150,156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}