{"orpha":79155,"name":"Hydroxykynureninuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Kynureninase deficiency","Xanthurenic aciduria"],"definition":"A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79155/","orphanet_url":"https://www.orpha.net/en/disease/detail/79155","names":{"fr":{"name":"Hydroxykynuréninurie","synonyms":["Acidurie xanthurénique","Déficit en kynuréninase"],"definition":"Trouble rare, génétique, du métabolisme du tryptophane caractérisé par une excrétion dans les urines de quantités excessives d'acide xanthurénique (XA), de 3-hydroxykynurénine et de kynurénine et une concentration accrue d'acide xanthurénique dans le plasma. Le phénotype clinique est très variable, allant de formes asymptomatiques ou légères se manifestant par une jaunisse et des vomissements, le développement et la croissance étant normaux par la suite, à des formes plus sévères se manifestant notamment par une déficience intellectuelle, une ataxie cérébelleuse, une pellagre, une encéphalopathie progressive avec hypotonie musculaire, un retard global de développement, une stéréotypie et/ou une surdité congénitale."},"de":{"name":"Hydroxykynureninurie","synonyms":["Kynureninase-Mangel","Xanthurenazidurie"],"definition":"Eine seltene, genetisch bedingte Störung des Tryptophan-Stoffwechsels, die durch eine massive Urinausscheidung von Xanthurensäure (XA), 3-Hydroxykynurenin und Kynurenin und eine erhöhte XA-Konzentration im Plasma gekennzeichnet ist. Der klinische Phänotyp ist sehr variabel und reicht von asymptomatischen oder milden Fällen mit Gelbsucht und Erbrechen und dann normaler Entwicklung und Wachstum bis hin zu schwereren Fällen mit Manifestationen wie Intelligenzminderung, zerebellärer Ataxie, Pellagra, progressiver Enzephalopathie mit muskulärer Hypotonie, allgemeiner Entwicklungsverzögerung, stereotypen Bewegungen und/oder kongenitaler Taubheit."},"es":{"name":"Hidroxiquinureninuria","synonyms":["Aciduria xanturénica","Deficiencia de quinureninasa"],"definition":"Es un trastorno de origen genético y poco frecuente del metabolismo del triptófano caracterizado por la excreción urinaria masiva de ácido xanturénico (AX), 3-hidroxiquinurenina y quinurenina y un aumento de la concentración plasmática de AX. El fenotipo clínico es altamente variable, desde casos asintomáticos o leves que se presentan con ictericia y vómitos, con un normal desarrollo y crecimiento posterior, hasta casos más graves con manifestaciones que incluyen discapacidad intelectual, ataxia cerebelosa, pelagra, encefalopatía progresiva con hipotonía muscular, retraso psicomotor global, gestos estereotipados y/o sordera congénita."},"it":{"name":"Idrossichinureninuria","synonyms":["Aciduria xanturenica","Deficit di chinureninasi"],"definition":"Si tratta di una malattia genetica rara del metabolismo del triptofano, caratterizzata da livelli molto elevati di acido xanturenico (XA), di 3-idrossichinurenina e di chinurenina nelle urine, e da una concentrazione elevata di XA nel plasma. Il quadro clinico è molto variabile, con pazienti asintomatici, o affetti da forme lievi (caratterizzate da ittero e vomito, con sviluppo e crescita normali), fino a casi più gravi, con disabilità intellettiva, atassia cerebellare, pellagra, encefalopatia progressiva con ipotonia muscolare, ritardo dello sviluppo globale, movimenti stereotipati e/o sordità congenita."},"nl":{"name":"Hydroxykynureninurie","synonyms":["Kynureninasedeficiëntie","Xanthureenacidurie"],"definition":"Een zeldzame, genetische stoornis van het tryptofaanmetabolisme gekarakteriseerd door massale excretie van xanthureenzuur (XA), 3-hydroxykynurenine en kynurenine via de urine en verhoogde XA-concentratie in het plasma. Het klinische fenotype is zeer variabel, gaande van asymptomatische of milde gevallen die zich presenteren met geelzucht en braken, en vervolgens normale ontwikkeling en groei, tot ernstigere gevallen met manifestaties als intellectuele achterstand, cerebellaire ataxie, pellagra, progressieve encefalopathie met musculaire hypotonie, algehele ontwikkelingsachterstand, stereotiepe bewegingen en/of congenitale doofheid."},"pt":{"name":"Encefalopatia por hidroxiquinureninúria","synonyms":["Acidúria xanturénica","Deficiência de Quinureninase"],"definition":"A encefalopatia por hidroxiquinureninuria é caracterizada por atraso psicomotor e encefalopatia não progressiva associada a excreção urinária de grandes quantidades de quinurenina, 3-hidroxiquinurenina e ácido xanturénico."},"pl":{"name":"Encefalopatia spowodowana hydroksykinureninurią","synonyms":["Acyduria ksanturenowa","Niedobór kinureninazy"]},"cs":{"name":"Encefalopatie způsobená hydroxykynureninurií","synonyms":["Deficit kynureninázy","Xanthurenická acidurie"]},"uk":{"name":"Гідроксикінуренінурія","synonyms":["Дефіцит кінуренінази","Ксантуренова ацидурія"],"definition":"A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness."},"zh":{"name":"羟基犬尿酸尿症","synonyms":["犬尿氨酸酶缺乏"]},"tr":{"name":"Hidroksikinüreninüri","synonyms":["Ksantürenik asidüri","Kinüreninaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"236800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1145853843"},{"source":"MeSH","code":"C536081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268474","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10039","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":289829,"name":"Disorder of tryptophan metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KYNU","name":"kynureninase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17334708[PMID]","hgnc":"6469","ensembl":"ENSG00000115919","omim":"605197","loci":["2q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-10","source":"17334708[PMID]_5586569[PMID]_14169454[PMID]","terms":[{"hpo":"HP:0004365","label":"Abnormality of tryptophan metabolism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005957","label":"Breathing dysregulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Excluded (0%)","criteria":null}]}}