{"orpha":1578,"name":"Pterin-4 alpha-carbinolamine dehydratase deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hyperphenylalaninemia due to dehydratase deficiency","Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency","Hyperphenylalaninemia with primapterinuria"],"definition":"A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1578/","orphanet_url":"https://www.orpha.net/en/disease/detail/1578","names":{"fr":{"name":"Déficit en 4a-hydroxy-tétrahydrobioptérine déshydratase","synonyms":["Hyperphénylalaninémie avec primaptérinurie","Hyperphénylalaninémie par déficit en 4a-hydroxy-tétrahydrobioptérine déshydratase","Hyperphénylalaninémie par déficit en déshydratase"],"definition":"Forme rare, génétique, transitoire et bénigne d'hyperphénylalaninémie par déficit en tétrahydrobioptérine caractérisée par une hypotonie musculaire, des signes irritatifs à l'EEG, un ralentissement des acquisitions psychomotrices, des mouvements anormaux progressant en fonction de l'âge, y compris la dystonie, et une excrétion concomitante de ptérines 7-substituées. Le développement neurologique est normal moyennant un contrôle des taux sanguins de phényalanine à travers un régime alimentaire."},"de":{"name":"Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel","synonyms":["Hyperphenylalaninämie durch Dehydratase-Mangel","Hyperphenylalaninämie durch Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel","Hyperphenylalaninämie mit Primapterinurie","Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, D","PCD-Mangel"],"definition":"Eine genetisch bedingte transiente und benigne Form einer Hyperphenylalaninämie aufgrund eines Tetrahydrobiopterinmangels, die durch Muskelhypotonie, Reizbarkeit (im EEG nachweisbar), langsame Aneignung psychomotorischer Fähigkeiten, altersabhängige Bewegungsstörungen, einschließlich Dystonie, und eine begleitende Ausscheidung von 7-substituierten Pterinen gekennzeichnet ist. Die neurologische Entwicklung ist bei diätetischer Kontrolle des Phenylalaninspiegels im Blut normal."},"es":{"name":"Deficiencia de pterin-4 alfa-carbinolamina deshidratasa","synonyms":["Hiperfenilalaninemia con primapterinuria","Hiperfenilalaninemia por deficiencia de deshidratasa","Hiperfenilalaninemia por deficiencia de pterin-4 alfa-carbinolamina deshidratasa"],"definition":"Es una forma poco frecuente, transitoria y benigna de hiperfenilalaninemia de origen genético por déficit de tetrahidrobiopterina y caracterizada por hipotonía muscular, irritabilidad (detectada por EEG), retraso en la adquisición de habilidades psicomotoras, trastornos del movimiento dependientes de la edad, incluyendo distonía y excreción concomitante de pterinas sustituidas en posición 7. El desarrollo neurológico es normal con el control dietético de fenilalanina en sangre."},"it":{"name":"Deficit di deidratasi","synonyms":["Iperfenilalaninemia da deficit di pterina-4-alfa-carbinolamina deidratasi","Iperfenilalaninemia da deficit di deidratasi"]},"nl":{"name":"Deficiëntie van pterine-4-alfa-carbinolaminedehydratase","synonyms":["Hyperfenylalaninemie door deficiëntie van dehydratase","Hyperfenylalaninemie door deficiëntie van pterine-4-alfa-carbinolaminedehydratase","Hyperfenylalaninemie met primapterinurie"],"definition":"Een zeldzame, genetische transiënte en goedaardige vorm van hyperfenylalaninemie door deficiëntie van tetrahydrobiopterine, gekenmerkt door spierhypotonie, prikkelbaarheid (gedetecteerd door EEG), trage verwerving van psychomotorische vaardigheden, leeftijdsafhankelijke bewegingsstoornissen waaronder dystonie, en excretie van pterinen met 7-substitutie. Neurologische ontwikkeling verloopt normaal mits controle van fenylalanine in bloed via het dieet."},"pt":{"name":"Deficiência de pterina-4 alfa-carbinolamina desidratase","synonyms":["Hiperfenilalaninemia por deficiência de desidratase","Hiperfenilalaninemia por deficiência de pterina-4-alfa-carbinolamina desidratase","Hiperfenilaninemia com primaptenuria"],"definition":"Uma forma rara, genética, transitória e benigna de hiperfenilalaninemia devido à deficiência de tetrahidrobiopterina, caracterizada por hipotonia muscular, irritabilidade (detetada por EEG), aquisição lenta de capacidades psicomotoras, perturbações do movimento dependentes da idade, incluindo distonia, e excreção concomitante de pterinas 7-substituídas. O desenvolvimento neurológico é normal com o controlo dietético da fenilalanina sanguínea."},"pl":{"name":"Niedobór dehydratazy karbinoloaminowej pteryny","synonyms":["Hiperfenylalaninemia spowodowana niedoborem dehydratazy","Hiperfenylalaninemia spowodowana niedoborem dehydratazy karbinoloaminowej pteryny"],"definition":"Rzadka, genetycznie uwarunkowana, przemijająca i łagodna postać hiperfenyloalaninemii spowodowana niedoborem tetrahydrobiopteryny, która charakteryzuje się obniżeniem napięcia mięśniowego, nadmierną pobudliwością (wykrywaną w EEG), powolnym nabywaniem umiejętności psychoruchowych, zależnymi od wieku zaburzeniami ruchowymi, w tym dystonią i towarzyszącym wydalaniem 7-podstawionych pteryn. Rozwój neurologiczny jest prawidłowy przy stosowaniu diety pozwalającej na kontrolę stężenia fenyloalaniny we krwi."},"cs":{"name":"Deficit dehydratázy","synonyms":["CADH deficit","Hyperfenylalaninemie s primapterinurií","PCBD deficit","Hyperfenylalaninemie způsobená deficitem dehydratázy","Hyperfenylalaninemie způsobená deficitem pterin-4-alfa-karbinolamin dehydratázy"]},"uk":{"name":"Дефіцит альфа-карбіноламіндегідратази птерину-4","synonyms":["Гіперфенілаланінемія внаслідок дефіциту дегідратази","Гіперфенілаланінемія внаслідок дефіциту птерин-4-альфа-карбіноламіндегідратази","Гіперфенілаланінемія з примаптеринурією"],"definition":"A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine."},"zh":{"name":"蝶吟-4α-甲醇胺脱氢酶缺乏症","synonyms":["蝶吟-4α-甲醇胺脱氢酶缺乏所致高苯丙氨酸血症"]},"tr":{"name":"Pterin-4 alfa-karbinolamin dehidrataz eksikliği","synonyms":["Primapterinürili hiperfenilalaninemi","Dehidrataz eksikliğine bağlı hiperfenilalaninemi","Pterin-4-alfa-karbinolamin dehidrataz eksikliğine bağlı hiperfenilalaninemi"]}},"xrefs":[{"source":"OMIM","code":"264070","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":"956925984"},{"source":"MONDO","code":"0009908","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849700","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2843","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":"PCBD1","name":"pterin-4 alpha-carbinolamine dehydratase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9760199[PMID]","hgnc":"8646","ensembl":"ENSG00000166228","omim":"126090","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-11","source":"19234759[PMID]_32456656[PMID]_21867484[PMID]","terms":[{"hpo":"HP:0040210","label":"Abnormal circulating biopterin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004923","label":"Hyperphenylalaninemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040206","label":"Abnormal circulating neopterin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004904","label":"Maturity-onset diabetes of the young","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very rare (<4-1%)","criteria":null}]}}