{"orpha":309147,"name":"Hyper-beta-alaninemia","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Hyperalaninemia"],"definition":"A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309147/","orphanet_url":"https://www.orpha.net/en/disease/detail/309147","names":{"fr":{"name":"Hyper-bêta-alaninémie","synonyms":["Hyperalaninémie"],"definition":"Trouble rare du métabolisme de la pyrimidine d'origine génétique caractérisé par une augmentation des taux sériques de bêta-alanine et un phénotype sévère à type d'hypotonie, de malaise, de crises, de détresse respiratoire, de léthargie et d'encéphalopathie. L'excrétion urinaire de bêta-alanine, d'acide bêta-amino-isobutyrique, de taurine et d'acide gamma-amino-butyrique est également élevée. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Hyper-beta-Alaninämie","synonyms":["Hyperalaninämie"],"definition":"Eine seltene, genetisch bedingte Störung des Pyrimidinstoffwechsels, die durch erhöhte Beta-Alanin-Serumspiegel und einen schweren Phänotyp mit Hypotonie, Unwohlsein, Krampfanfällen, Atemnot, Lethargie und Enzephalopathie gekennzeichnet ist. Die Urinausscheidung von Beta-Alanin, Beta-Amino-Isobuttersäure, Taurin und Gamma-Amino-Buttersäure ist ebenfalls erhöht. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Hiper-beta-alaninemia","synonyms":["Hiperalaninemia"],"definition":"Es un trastorno genético del metabolismo de la pirimidina, poco frecuente, caracterizado por un aumento de los niveles séricos de beta-alanina y un fenotipo grave que incluye hipotonía, malestar general, convulsiones, distrés respiratorio, letargia y encefalopatía. La excreción urinaria de beta-alanina, ácido beta-amino-isobutírico, taurina y ácido gamma-amino-butírico también es elevada. No ha habido más casos descritos en la literatura desde 1994."},"it":{"name":"Iper-beta-alaninemia","synonyms":["Iperalaninemia"],"definition":"È un difetto genetico raro del metabolismo delle pirimidine, caratterizzato da un aumento dei livelli di beta-alanina nel siero e da un quadro clinico grave, che comprende l'ipotonia, il malessere, le crisi epilettiche, il distress respiratorio, la letargia e l'encefalopatia. Sono anche elevati i valori della beta-alanina, dell'acido beta-aminoisobutirrico, della taurina e dell'acido gamma-amminobutirrico nelle urine. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Hyper-bèta-alaninemie","synonyms":["Hyperalaninemie"],"definition":"Een zeldzame, genetische stoornis van het pyrimidinemetabolisme gekarakteriseerd door verhoogde gehaltes van bèta-alanine in het serum en een ernstig fenotype met onder meer hypotonie, malaise, insulten, ademnood, lethargie en encefalopathie. Excretie van bèta-alanine, bèta-amino-isoboterzuur, taurine, en gamma-amino-boterzuur in de urine is ook toegenomen. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Alaninémia hiper-beta"},"pl":{"name":"Hiper-beta-alaninemia","synonyms":["Hiperalaninemia"]},"cs":{"name":"Hyper-beta-alaninémie","synonyms":["Hyperalaninémie"]},"uk":{"name":"Гіпер-бета-аланінемія","synonyms":["Гіпераланінемія"],"definition":"A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994."},"zh":{"name":"高β-丙氨酸血症","synonyms":["高丙氨酸血症"],"definition":"一种罕见的嘧啶代谢的遗传性疾病，其特征是血清β-丙氨酸水平升高和严重的表现，包括肌张力降低、不适、癫痫发作、呼吸窘迫、嗜睡和脑瘫。尿中β-丙氨酸、β-氨基异丁酸、牛磺酸和γ-氨基丁酸的排泄量也升高。自1994年以来，没有进一步的文献报道。"},"tr":{"name":"Hiper beta alaninemi","synonyms":["Hiperalaninemi"]}},"xrefs":[{"source":"OMIM","code":"237400","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":"1539941275"},{"source":"MONDO","code":"0009378","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562684","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268630","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10267","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":79193,"name":"Disorder of pyrimidine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"17926374[PMID]_7936305[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17926374[PMID]_7936305[PMID]"}],"phenotypes":null}