{"orpha":226,"name":"Dihydropteridine reductase deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hyperphenylalaninemia due to dihydropteridine reductase deficiency","PKU type 2","Phenylketonuria type 2"],"definition":"A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-226/","orphanet_url":"https://www.orpha.net/en/disease/detail/226","names":{"fr":{"name":"Déficit en dihydroptéridine réductase","synonyms":["Hyperphénylalaninémie par déficit en dihydroptéridine réductase","Phénylcétonurie type 2"],"definition":"Forme rare d'hyperphénylalaninémie due à un déficit de recyclage de la tétrahydroptérine (BH4), entraînant un déficit en dopamine et en sérotonine, caractérisée sur le plan clinique par une maladie neurologique d'apparition infantile de sévérité variable, allant de formes légères avec un développement neurologique mineur, à des formes sévères avec hypotonie, retard de développement, mouvement complexes anormaux, dominés par la dystonie ou la dystonie-parkinsonisme. Certains patients peuvent présenter des symptômes neurologiques réfractaires tels qu'un certain retard de développement, une épilepsie et des anomalies cérébrales."},"de":{"name":"Dihydropteridinreduktase-Mangel","synonyms":["DHPR-Mangel","Hyperphenylalaninämie durch Dihydropteridinreduktase-Mangel","PKU Typ 2","Phenylketonurie Typ 2"],"definition":"Eine Subtyp der Hyperphenylalaninämie durch Tetrahydrobiopterin (BH4)-Mangel, der zu einem zentralen Dopamin- und Serotoninmangel führt. Klinisch ist diese Störung gekennzeichnet durch eine im Kindesalter auftretende neurologische Erkrankung mit unterschiedlichem Schweregrad. Die Symptome reichen von leichten Formen mit geringfügigen neurologischen Entwicklungsstörungen bis hin zu schweren Formen mit Hypotonie, Entwicklungsverzögerung und komplexen Bewegungsstörungen, die durch Dystonie oder Dystonie-Parkinsonismus gekennzeichnet sind. Einige Patienten können zudem refraktäre neurologische Symptome wie Entwicklungsverzögerungen, Epilepsie und Hirnanomalien aufweisen."},"es":{"name":"Deficiencia de dihidropteridina reductasa","definition":"Es una forma poco frecuente de hiperfenilalaninemia debida a un defecto de reciclaje de la tetrahidropterina (BH4), que conduce a un déficit central de dopamina y serotonina. Está caracterizada clínicamente por una enfermedad neurológica de inicio infantil, de gravedad variable que va desde formas leves con un desarrollo neurológico ligeramente afectado hasta formas graves con hipotonía, retraso en el desarrollo y un trastorno complejo del movimiento dominado por distonía o por distonía-parkinsonismo. Algunos pacientes pueden presentar síntomas neurológicos refractarios, como cierto grado de retraso en el desarrollo, epilepsia y anomalías cerebrales."},"it":{"name":"Deficit di diidropteridina reduttasi","synonyms":["Fenilchetonuria, tipo 2","Iperfenilalaninemia da deficit di diidropteridina"]},"nl":{"name":"Deficiëntie van dihydrobiopteridinereductase","synonyms":["Fenylketonurie type 2","Hyperfenylalaninemie door deficiëntie van dihydropteridinereductase","PKU type 2"],"definition":"Een zeldzame vorm van hyperfenylalaninemie door deficiëntie van recyclage van tetrahydropterine (BH4), wat leidt tot centrale deficiëntie van dopamine en serotonine, hetgeen klinisch gekenmerkt wordt door infantiel optredende neurologische ziekte met variabele ernst, gaande van milde vormen met geringe neurologische ontwikkeling tot ernstige vormen met hypotonie, ontwikkelingsachterstand, complexe bewegingsstoornis gedomineerd door dystonie of dystonie-parkinsonisme. Sommige patiënten vertonen mogelijk refractaire neurologische symptomen zoals een mate van ontwikkelingsachterstand, epilepsie en hersenafwijkingen."},"pt":{"name":"Deficiência de diidropteridina redutase","synonyms":["Fenilcetonúria tipo 2","Hiperfenilalaninemia por deficiência de diidropteridina redutase"],"definition":"Forma rara de hiperfenilalaninemia devido à deficiência de reciclagem de tetrahidropterina (BH4), levando à deficiência central de dopamina e serotonina, clinicamente caracterizada por doença neurológica de início infantil de gravidade variável, variando de formas leves com desenvolvimento neurológico menor a formas graves com hipotonia, atraso no desenvolvimento, distúrbio complexo de movimento dominado por distonia ou distonia parkinsonismo. Alguns doentes podem apresentar sintomas neurológicos refratários, como um grau de atraso no desenvolvimento, epilepsia e anomalias cerebrais."},"pl":{"name":"Niedobór reduktazy dihydropterydyny","synonyms":["Fenyloketonuria typu 2","Hiperfenyloalaninemia spowodowana niedoborem reduktazy dihydropterydyny","PKU typu 2"]},"cs":{"name":"Deficit dihydropteridin reduktázy","synonyms":["PKU typ 2","Fenylketonurie, typ 2","Hyperfenylalaninémie způsobená deficitem dihydropteridin reduktázy"]},"uk":{"name":"Дефіцит дигідроптеридинредуктази","synonyms":["Гіперфенілаланінемія внаслідок дефіциту дигідроптеридинредуктази","Фенілкетонурія типу 2","PKU тип 2"],"definition":"A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities."},"zh":{"name":"二氢蝶啶还原酶缺乏症","synonyms":["二氢蝶啶还原酶缺乏所致高苯丙氨酸血症"]},"tr":{"name":"Dihidropteridin redüktaz eksikliği","synonyms":["PKU tip 2","Fenilketonüri tip 2","Dihidropteridin redüktaz eksikliğine bağlı hiperfenilalaninemi"]}},"xrefs":[{"source":"OMIM","code":"261630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1931239861"},{"source":"MONDO","code":"0009862","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268465","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4319","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":238583,"name":"Hyperphenylalaninemia due to tetrahydrobiopterin deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"QDPR","name":"quinoid dihydropteridine reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9744478[PMID]","hgnc":"9752","ensembl":"ENSG00000151552","omim":"612676","loci":["4p15.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"14705166[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null}]}}