{"orpha":939,"name":"3-hydroxyisobutyric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-939/","orphanet_url":"https://www.orpha.net/en/disease/detail/939","names":{"fr":{"name":"Acidurie 3-hydroxyisobutyrique","definition":"Acidurie organique classique rare caractérisée par une accumulation tissulaire et un taux urinaire de l'acide 3-hydroxyisobutyrique élevé. Le phénotype clinique va d'épisodes légers et récurrents de vomissements et un développement cognitif normal à une acidose massive, des convulsions et un retard de croissance associé à une déficience intellectuelle sévère et un décès précoce. Une dysmorphie craniofaciale (microcéphalie, visage triangulaire, front court et fuyant, philtrum long et proéminent et micrognathie) et des anomalies cérébrales variables ont également été décrites."},"de":{"name":"3-Hydroxy-Isobuttersäure-Krankheit","definition":"Eine seltene klassische organische Azidurie, die durch eine Gewebeakkumulation und eine erhöhte Urinausscheidung von 3-Hydroxyisobuttersäure gekennzeichnet ist. Der klinische Phänotyp reicht von wiederkehrenden leichten Episoden von Erbrechen mit normaler kognitiver Entwicklung bis hin zu massiver Azidose, Krampfanfällen und Gedeihstörung mit schwerwiegender Intelligenzminderung und frühem Tod. Dysmorphe kraniofaziale Merkmale (wie Mikrozephalie, dreieckiges Gesicht, kurze, schräge Stirn, langes, vorstehendes Philtrum und Mikrognathie) und variable zerebrale Anomalien sind ebenfalls beschrieben worden."},"es":{"name":"Aciduria 3 hidroxi-isobutírica","definition":"Es una aciduria orgánica clásica poco frecuente caracterizada por el acúmulo tisular y el aumento de la excreción urinaria de ácido 3-hidroxiisobutírico. El fenotipo clínico varía desde leves episodios recurrentes de vómitos con un desarrollo cognitivo normal hasta acidosis masiva, crisis epilépticas y fallo de medro con grave discapacidad intelectual y muerte prematura. También se ha descrito rasgos craneofaciales dismórficos (como microcefalia, cara triangular, frente inclinada y estrecha, filtrum largo y prominente y micrognatia), así como anomalías cerebrales variables."},"it":{"name":"Aciduria 3-idrossi-isobutirrica","definition":"Si tratta di un'aciduria organica classica rara, caratterizzata dall'accumulo di acido 3-idrossiisobutirrico nei tessuti e dal suo aumento nelle urine. Il quadro clinico comprende episodi ricorrenti lievi di vomito con sviluppo cognitivo normale, fino all'acidosi massiva, alle crisi epilettiche e al ritardo della crescita con disabilità intellettiva grave e alla morte precoce. I pazienti possono presentare anche dismorfismi craniofacciali (microcefalia, viso triangolare, fronte piccola e sfuggente, filtro lungo e prominente, micrognazia) e anomalie cerebrali variabili."},"nl":{"name":"3-hydroxyisoboterzuuracidurie","definition":"Een zeldzame klassieke organische acidurie, gekarakteriseerd door accumulatie in weefsel en verhoogde excretie in urine van 3-hydroxyisoboterzuur. Het klinische fenotype varieert van recidiverende milde episodes van braken met normale cognitieve ontwikkeling tot massale acidose, insulten en niet-gedijen met zeer ernstige intellectuele achterstand en vroeg overlijden. Dysmorfe craniofaciale kenmerken (zoals microcefalie, driehoekig gelaat, kort en hellend voorhoofd, lang en prominent filtrum, en micrognathie) en variabele cerebrale anomalieën werden ook reeds beschreven."},"pt":{"name":"Acidúria 3-hidroxiisobutírica"},"pl":{"name":"Kwasica 3-hydroksyizomasłowa"},"cs":{"name":"3-hydroxyizobutyrátová acidurie"},"uk":{"name":"3-гідроксиізомасляна ацидурія","definition":"A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described."},"zh":{"name":"3-羟基酸尿症"},"tr":{"name":"3-hidroksiizobutirik asitüri"}},"xrefs":[{"source":"OMIM","code":"236795","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1293648631"},{"source":"MONDO","code":"0009371","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535312","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342737","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5662","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"16466957[PMID]_19650361[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16466957[PMID]_19650361[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}