{"orpha":2843,"name":"Pentosuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Essential pentosuria","Xylitol dehydrogenase deficiency"],"definition":"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2843/","orphanet_url":"https://www.orpha.net/en/disease/detail/2843","names":{"fr":{"name":"Pentosurie","synonyms":["Déficit en xylitol déshydrogénase"],"definition":"La pentosurie est un trouble inné du métabolisme caractérisé par l'excrétion de 1 à 4g de pentose (L-xylulose) dans les urines par jour."},"de":{"name":"Pentosurie","synonyms":["Pentosurie, essentielle","Xylitol-Dehydrogenase-Mangel"],"definition":"Die Pentosurie ist ein angeborener Stoffwechseldefekt mit Ausscheidung von täglich 1-4 g L-Xylulose (einer Pentose) im Urin."},"es":{"name":"Pentosuria","synonyms":["Pentosuria esencial"],"definition":"La pentosuria es un error congénito del metabolismo que se caracteriza por la excreción de 1 a 4 g. de pentosa L-xilulosa en la orina por día."},"it":{"name":"Pentosuria","synonyms":["Deficit di xilitolo deidrogenasi","Pentosuria essenziale"],"definition":"La pentosuria è un difetto congenito del metabolismo, caratterizzato dall'escrezione da 1 a 4 g di pentoso L-xilulosio nelle urine al giorno."},"nl":{"name":"Pentosurie","synonyms":["Essentiële pentosurie","Xylitol-dehydrogenasedeficiëntie"],"definition":"Pentosurie is een aangeboren metabole afwijking die wordt gekenmerkt door de uitscheiding van 1 tot 4 g pentose L-xylulose in de urine per dag."},"pt":{"name":"Pentosúria","synonyms":["Deficiência de xilitol desidrogenase","Pentosúria essencial"],"definition":"A pentosúria é uma doença metabólica congénita que se caracteriza pela excreção de 1 a 4 g da pentose L-xilulose na urina por dia."},"pl":{"name":"Pentozuria","synonyms":["Niedobór dehydrogenazy ksylitolu","Pentozuria"]},"cs":{"name":"Pentosurie","synonyms":["Esenciální pentosurie","Deficit xylitol dehydrogenázy"]},"uk":{"name":"Пентозурія","synonyms":["Есенціальна пентозурія","Дефіцит ксилітолдегідрогенази"],"definition":"Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day."},"zh":{"name":"戊糖尿症","synonyms":["木糖醇脱氢酶缺乏症"]},"tr":{"name":"Pentosurya","synonyms":["Esansiyel pentozüri","Ksilitol dehidrogenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"260800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C51.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"229172147"},{"source":"MONDO","code":"0009846","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268162","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"418","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064170","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":440701,"name":"Disorders of pentose/polyol metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"DCXR","name":"dicarbonyl and L-xylulose reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22042873[PMID]","hgnc":"18985","ensembl":"ENSG00000169738","omim":"608347","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-11","source":"18850300[PMID]_22042873[PMID]","terms":[{"hpo":"HP:0031979","label":"Abnormal urine carbohydrate level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011021","label":"Abnormality of circulating enzyme level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011013","label":"Abnormal circulating carbohydrate concentration","frequency":"Frequent (79-30%)","criteria":null}]}}