{"orpha":13,"name":"6-pyruvoyl-tetrahydropterin synthase deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"],"definition":"A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-13/","orphanet_url":"https://www.orpha.net/en/disease/detail/13","names":{"fr":{"name":"Déficit en 6-pyruvoyl-tétrahydroptérine synthase","synonyms":["Hyperphénylalaninémie par déficit en 6-pyruvoyl-tétrahydroptérine synthase"],"definition":"Forme rare d'hyperphénylalaninémie due à un déficit de biosynthèse de la tétrahydroptérine (BH4), entraînant un déficit en dopamine et en sérotonine dans le système nerveux central, caractérisée par une maladie neurologique d'apparition infantile de gravité variable, allant de formes légères avec un développement neurologique normal à des formes sévères avec hypotonie, retard de développement, mouvement complexes anormaux, dominés par la dystonie ou la dystonie-parkinsonisme."},"de":{"name":"6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel","synonyms":["Hyperphenylalalinanämie durch 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel","Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, A","PTS-Mangel"],"definition":"Eine Subtyp der Hyperphenylalaninämie durch Tetrahydrobiopterin (BH4)-Mangel. Dieser führt zu einem zentralen Dopamin- und Serotoninmangel und ist durch eine im Kindesalter auftretende neurologische Erkrankung mit variablem Schweregrad gekennzeichnet. Die Bandbreite reicht von leichten Formen mit normaler neurologischer Entwicklung bis zu schweren Formen mit Hypotonie, Entwicklungsverzögerung und komplexen Bewegungsstörungen, die von Dystonie oder Dystonie-Parkinsonismus dominiert werden."},"es":{"name":"Deficiencia de 6-piruvil-tetrahidropterina sintasa","definition":"Es una forma poco frecuente de hiperfenilalaninemia debida a la deficiencia de biosíntesis de la tetrahidropterina (BH4), que conduce a una deficiencia central de dopamina y serotonina, y que se caracteriza por una enfermedad neurológica de inicio infantil con gravedad variable, que va desde formas leves con desarrollo neurológico normal hasta formas graves con hipotonía, retraso en el desarrollo y un trastorno complejo del movimiento dominado por distonía o por distonía-parkinsonismo."},"it":{"name":"Deficit di 6-piruvoil-tetraidropterina-sintasi","synonyms":["Iperfenilalaninemia da deficit di 6-piruvoil-tetraidropterina-sintasi"]},"nl":{"name":"Deficiëntie van 6-pyruvoyl-tetrahydropterinesynthase","synonyms":["Hyperfenylalaninemie door deficiëntie van 6-pyruvoyl-tetrahydropterinesynthase"],"definition":"Een zeldzame vorm van hyperfenylalaninemie door deficiëntie van biosynthese van tetrahydropterine (BH4), wat leidt tot centrale deficiëntie van dopamine en serotonine, gekenmerkt door infantiel optredende neurologische ziekte met variabele ernst, gaande van milde vormen met normale neurologische ontwikkeling tot ernstige vormen met hypotonie, ontwikkelingsachterstand, complexe bewegingsstoornis gedomineerd door dystonie of dystonie-parkinsonisme."},"pt":{"name":"Deficiência de 6-piruvoil-tetrahidropterina sintase","synonyms":["Hiperfenilalaninemia por deficiência de 6-piruvoil-tetrahidropterina sintase"],"definition":"Forma rara de hiperfenilalaninemia devido à deficiência da biossíntese de tetra-hidropterina (BH4), levando à deficiência central de dopamina e serotonina, e caracterizada por doença neurológica de início infantil de gravidade variável, variando de formas leves com desenvolvimento neurológico normal a formas graves com hipotonia, atraso no desenvolvimento, distúrbio complexo de movimento dominado por distonia ou distonia parkinsoniana."},"pl":{"name":"Niedobór syntzay 6-pirogronylo-tetrahydropteryny","synonyms":["Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency"]},"cs":{"name":"Deficit 6-pyruvoyl-tetrahydropterin syntázy","synonyms":["Hyperfenylalaninémie způsobená deficitem 6-pyruvoyltetrahydropterin syntázy"]},"uk":{"name":"Дефіцит 6-пірувоїл-тетрагідроптеринсинтази","synonyms":["Гіперфенілаланінемія внаслідок дефіциту 6-пірувоилтетрагідроптеринсинтази"],"definition":"A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism."},"zh":{"name":"6-丙酮酰-四氢蝶呤合成酶缺乏症","synonyms":["6-丙酮酰四氢蝶呤合成酶缺乏致高苯丙氨酸血症"]},"tr":{"name":"6-piruvoil-tetrahidropterin sentaz eksikliği","synonyms":["6-piruvoiltetrahidropterin sentaz eksikliğine bağlı hiperfenilalaninemi"]}},"xrefs":[{"source":"OMIM","code":"261640","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":"1744398760"},{"source":"MONDO","code":"0009863","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0878676","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5682","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":"PTS","name":"6-pyruvoyltetrahydropterin synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9689","ensembl":"ENSG00000150787","omim":"612719","loci":["11q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"30853107[PMID]_32456656[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"30853107[PMID]_32456656[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0854,"area":"Brazil","status":"Validated","source":"28801146[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3094,"area":"China","status":"Validated","source":"33980295[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5258,"area":"Hong Kong","status":"Validated","source":"24803483[PMID]_24992243[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-05","source":"11388593[PMID]","terms":[{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}