{"orpha":2056,"name":"Essential fructosuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fructokinase deficiency","Ketohexokinase deficiency"],"definition":"Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2056/","orphanet_url":"https://www.orpha.net/en/disease/detail/2056","names":{"fr":{"name":"Fructosurie essentielle","synonyms":["Déficit en cétohexokinase","Déficit en fructokinase"],"definition":"La fructosurie essentielle est un trouble rare du métabolisme du fructose , autosomique récessif, causé par la déficience en l'enzyme fructokinase, et caractérisé par une fructosémie et une fructosurie anormalement élevées après ingestion de fructose et de sucres associés (sucrose, sorbitol). La fructosurie essentielle est cliniquement asymptomatique et anodine, et une restriction alimentaire n'est pas indiquée."},"de":{"name":"Fruktosurie, essentielle","synonyms":["Fructokinase-Mangel","Ketohexokinase-Mangel"]},"es":{"name":"Fructosuria esencial","definition":"Es un trastorno del metabolismo de la fructosa poco frecuente y de caracter autosómico recesivo, producido por una actividad deficiente de la enzima fructoquinasa. Está caracterizada por fructosemia elevada y fructosuria después de la ingestión de fructosa y azúcares relacionados (sacarosa, sorbitol). Este trastorno es clínicamente asintomático y benigno. No está indicada la restricción dietética."},"it":{"name":"Fruttosuria","synonyms":["Deficit di fruttochinasi"],"definition":"La fruttosuria essenziale è una malattia rara del metabolismo del fruttosio, ad eredità autosomica recessiva, causata dal deficit dell'attività dell'enzima fruttochinasi. È caratterizzata da un'elevata fruttosemia e fruttosuria dopo ingestione di fruttosio e di altri zuccheri correlati (saccarosio, sorbitolo). La fruttosuria essenziale è asintomatica dal punto di vista clinico ed è benigna. Non si raccomanda alcuna limitazione alimentare."},"nl":{"name":"Essentiële fructosurie","synonyms":["Deficiëntie van fructokinase","Deficiëntie van ketohexokinase"],"definition":"Een zeldzame autosomaal recessieve aandoening van fructosemetabolisme, veroorzaakt door deficiëntie van de activiteit van het enzym fructokinase, en gekarakteriseerd door verhoogde fructosemie en aanwezigheid van fructosurie na ingestie van fructose en verwante suikers (sucrose, sorbitol). Essentiële fructosurie is klinisch asymptomatisch en onschadelijk. Dieetrestricties worden niet nodig geacht."},"pt":{"name":"Frutosúria essencial","synonyms":["Deficiência de cetohexocinase","Deficiência de frutocinase"]},"pl":{"name":"Fruktozuria","synonyms":["Niedobór fruktokinazy","Niedobór ketoheksokinazy"]},"cs":{"name":"Esenciální fruktosurie","synonyms":["Deficit fruktokinázy","Deficit ketohexokinázy"]},"uk":{"name":"Есенціальна фруктозурія","synonyms":["Дефіцит фруктокінази","Дефіцит кетогексокінази"],"definition":"Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated."},"zh":{"name":"特发性果糖尿","synonyms":["己酮糖(磷酸)激酶缺乏"]},"tr":{"name":"Esansiyel fruktozüri","synonyms":["Fruktokinaz eksikliği","Ketoheksokinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"229800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1362211287"},{"source":"MONDO","code":"0009252","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538068","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268160","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015487","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308463,"name":"Disorder of fructose metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"KHK","name":"ketohexokinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7833921[PMID]_19237742[PMID]","hgnc":"6315","ensembl":"ENSG00000138030","omim":"614058","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-15","source":"29664676 [PMID]_28368361[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011033","label":"Impairment of fructose metabolism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031979","label":"Abnormal urine carbohydrate level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010969","label":"Abnormality of glycolipid metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Excluded (0%)","criteria":null}]}}