{"orpha":65287,"name":"Beta-ureidopropionase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta-alanine synthase deficiency"],"definition":"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65287/","orphanet_url":"https://www.orpha.net/en/disease/detail/65287","names":{"fr":{"name":"Déficit en bêta-uréidopropionase","synonyms":["Déficit en bêta-alanine synthase"],"definition":"Trouble très rare du métabolisme de la pyrimidine décrit à ce jour chez moins de 10 patients. Le tableau clinique est extrêmement varié allant de cas asymptomatiques à des troubles neurologiques (épilepsie, autisme) et des troubles du développement (urogénital, colorectal)."},"de":{"name":"Beta-Ureidopropionase-Mangel","synonyms":["Beta-Alanin-Synthase-Mangel"],"definition":"Der Beta-Ureido-Propionase-Mangel, ist eine sehr seltene, bisher bei weniger als 10 Patienten beschriebene Störung des Pyrimidin-Stoffwechsels mit extrem unterschiedlicher Symptomatik, von asymptomatischen Fällen bis zu neurologischen Symptomen (Epilepsie, Autismus) und Entwicklungsstörungen (urogenital, kolorektal)."},"es":{"name":"Deficiencia de beta-ureidopropionasa","synonyms":["Deficiencia de beta-alanina sintasa","Deficiencia de beta-alanina sintetasa"],"definition":"El déficit de beta-ureidopropionasa es un trastorno muy raro del metabolismo de la pirimidina descrito en menos de 10 pacientes hasta la fecha, con un cuadro clínico extremadamente amplio que varía desde casos asintomáticos hasta trastornos neurológicos (epilepsia, autismo) y del desarrollo (urogenital, colorrectal)."},"it":{"name":"Deficit di beta-ureidopropionasi","synonyms":["Deficit di beta-alanina sintasi"],"definition":"Il deficit di beta-ureidopropionasi è una malattia molto rara del metabolismo della pirimidina, descritta fino ad oggi in meno di 10 pazienti, che comporta un quadro clinico estremamente variabile, dai casi asintomatici ai disturbi neurologici (epilessia, autismo) e dello sviluppo (urogenitale, colorettale)."},"nl":{"name":"Deficiëntie van bèta-ureïdopropionase","synonyms":["Deficiëntie van bèta-alaninesynthase"],"definition":"Een zeer zeldzame aandoening van metabolisme van pyrimidine, tot op heden beschreven bij minder dan 10 patiënten, en gekenmerkt door een uiterst divers klinisch beeld gaande van asymptomatische gevallen tot neurologische aandoeningen (epilepsie, autisme) en ontwikkelingsstoornissen (urogenitaal, colorectaal)."},"pt":{"name":"Deficiência de beta-ureidopropionase","synonyms":["Deficiência de beta-alanina sintase"]},"pl":{"name":"Niedobór beta-ureidopropionazy","synonyms":["Niedobór syntazy beta-alaninowej"]},"cs":{"name":"Deficit beta-ureidopropionázy","synonyms":["Deficit beta-alanin syntázy"]},"uk":{"name":"Дефіцит бета-уреїдопропіонази","synonyms":["Дефіцит бета-аланінсинтетази"],"definition":"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)."},"zh":{"name":"β-脲基丙酸酶缺乏症","synonyms":["β-丙氨酸合酶缺乏症"]},"tr":{"name":"Beta-üreidopropionaz eksikliği","synonyms":["Beta-alanin sentaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613161","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1227425060"},{"source":"MONDO","code":"0013164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291512","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79193,"name":"Disorder of pyrimidine metabolism","classifications":[150,156]},{"orpha":225707,"name":"Metabolic neurotransmission anomaly with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"UPB1","name":"beta-ureidopropionase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15385443[PMID]","hgnc":"16297","ensembl":"ENSG00000100024","omim":"606673","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"17964839[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17964839[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-23","source":"30608453[PMID]_22525402[PMID]_25638458[PMID]_24526388[PMID]_18853477[PMID]","terms":[{"hpo":"HP:6000279","label":"Elevated urinary N-carbamoyl-beta-alanine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000623","label":"Elevated urinary N-carbamyl-beta-aminoisobutyric acid level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000119","label":"Elevated urinary dihydrothymine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000118","label":"Elevated urinary dihydrouracil level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000082","label":"Reduced hepatic beta-ureidopropionase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}