{"orpha":440706,"name":"Ribose-5-P isomerase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440706/","orphanet_url":"https://www.orpha.net/en/disease/detail/440706","names":{"fr":{"name":"Déficit en ribose-5-phosphate isomerase","definition":"Trouble rare et héréditaire du métabolisme des pentoses-phosphates caractérisé par une leucoencéphalopathie progressive et une forte augmentation des taux de ribitol et de D-arabitol dans le cerveau et les fluides corporels. Le tableau clinique comprend un retard psychomoteur, une épilepsie et une régression neurologique lente pendant l'enfance avec ataxie, spasticité, atrophie optique et neuropathie sensorimotrice."},"de":{"name":"Ribose-5-phosphat-Isomerase-Mangel"},"es":{"name":"Deficiencia de ribosa-5-P isomerasa","definition":"La deficiencia de ribosa-5-P isomerasa es un trastorno del metabolismo de la pentosa fosfato, hereditario y muy poco frecuente, caracterizado por leucoencefalopatía progresiva y niveles muy elevados de ribitol y D-arabitol en el cerebro y fluidos corporales. La presentación clínica incluye retraso psicomotor, epilepsia y regresión neurológica lenta de inicio en la infancia, con ataxia, espasticidad, atrofia óptica y neuropatía sensitivo-motora."},"it":{"name":"Deficit di ribosio-5-P isomerasi","definition":"Il deficit di ribosio-5-P isomerasi è una malattia ereditaria molto rara del metabolismo del pentoso fosfato, caratterizzato da leucoencefalopatia progressiva e livelli marcatamente aumentati di ribitolo e D-arabitolo nel cervello e nei liquidi corporei. Il quadro clinico comprende il ritardo psicomotorio, l'epilessia e la regressione neurologica ad esordio infantile, a progressione lenta, associata ad atassia, spasticità, atrofia ottica e neuropatia sensitivo-motoria."},"nl":{"name":"Ribose-5-P isomerase-deficiëntie","definition":"Ribose-5-P isomerase-deficiëntie is een uiterst zeldzame, erfelijke stoornis van het pentosefosfaatmetabolisme die wordt gekarakteriseerd door progressieve leuko-encefalopathie en sterk verhoogde gehaltes van ribitol en D-arabitol in de hersenen en lichaamsvloeistoffen. Het klinisch beeld omvat psychomotorische achterstand, epilepsie, en in de kindertijd aanvangende, trage neurologische regressie met ataxie, spasticiteit, opticusatrofie en sensomotorische neuropathie."},"pt":{"name":"Défice de ribose-5-P isomerase"},"pl":{"name":"Niedobór izomerazy rybozo-5-P","definition":"*Niedobór izomerazy rybozo-5-P jest niezwykle rzadkim, dziedzicznym zaburzeniem metabolizmu fosforanów pentoz, który charakteryzuje się postępującą leukoencefalopatią oraz znacząco podwyższonym stężeniem rybitolu i D-arabitolu w mózgu i płynach ustrojowych. Obraz kliniczny obejmuje opóźnienie psychoruchowe, padaczkę i powolną regresję neurologiczną o początku w dzieciństwie, z ataksją, spastycznością, zanikiem nerwu wzrokowego i neuropatią czuciowo-ruchową."},"cs":{"name":"Deficit ribóza-5-fosfát izomerázy"},"uk":{"name":"Дефіцит рибозо-5-Р ізомерази","definition":"Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy."},"zh":{"name":"核糖-5-磷酸异构酶缺乏症","definition":"核糖-5-P异构酶缺乏症是一种极为罕见的遗传性戊糖磷酸代谢紊乱，其特征是进行性脑白质病，以及脑脊液和体液中核糖醇和D-阿拉伯糖醇水平大大增加。临床表现包括精神运动迟缓，癫痫和儿童期缓慢的发展的神经系统退行性变，共济失调，痉挛，视神经萎缩和感觉运动神经病。"},"tr":{"name":"Riboz-5-P izomeraz eksikliği"}},"xrefs":[{"source":"OMIM","code":"608611","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012073","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291609","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79186,"name":"Disorder of pentose phosphate metabolism","classifications":[150,156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RPIA","name":"ribose 5-phosphate isomerase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14988808[PMID]_20499043[PMID]","hgnc":"10297","ensembl":"ENSG00000153574","omim":"180430","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"14988808[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14988808[PMID]"}],"phenotypes":null}