{"orpha":615964,"name":"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acute reversible leukoencephalopathy due to SLC13A3 deficiency","Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency"],"definition":"A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-615964/","orphanet_url":"https://www.orpha.net/en/disease/detail/615964","names":{"fr":{"name":"Leucoencéphalopathie réversible aiguë avec augmentation de l'alpha-cétoglutarate urinaire","synonyms":["Leucoencéphalopathie aiguë réversible par déficit en SLC13A3"],"definition":"Maladie neurométabolique rare caractérisée par une détérioration neurologique aiguë et réversible, parfois récurrente (somnolence, hypotonie, dysarthrie et ataxie), lors d'un épisode fébrile. La maladie est associée à une leucoencéphalopathie réversible et à une excrétion urinaire constamment élevée d'alpha-cétoglutarate et de N-acétylaspartate principalement (parfois dans le liquide cérébrospinal)."},"de":{"name":"Akute reversible Leukoenzephalopathie mit erhöhtem Alpha-Ketoglutarat im Urin","synonyms":["Akute reversible Leukoenzephalopathie durch natriumabhängigen Dicarboxylat-Transporter-Mangel","Akute reversible Leukoenzephalopathie durch SLC13A3-Defizienz"],"definition":"Eine seltene neurometabolische Störung, die durch akute, reversible und manchmal wiederkehrende neurologische Verschlechterungen (einschließlich Schläfrigkeit, Hypotonie, Dysarthrie und Ataxie) während einer fieberhaften Erkrankung gekennzeichnet ist. Die Erkrankung geht mit einer reversiblen Leukoenzephalopathie und einer anhaltend erhöhten Ausscheidung (und manchmal Konzentration im Liquor) vor allem von Alpha-Ketoglutarat und N-Acetylaspartat im Urin einher."},"es":{"name":"Leucoencefalopatía aguda reversible con aumento de alfa-cetoglutarato en orina","synonyms":["Leucoencefalopatía aguda reversible por deficiencia de SLC13A3","Leucoencefalopatía aguda reversible por deficiencia del transportador de dicarboxilato dependiente de sodio"],"definition":"Es una enfermedad neurometabólica poco frecuente caracterizada por un deterioro neurológico agudo, reversible y, en ocasiones, recurrente (que incluye somnolencia, hipotonía, disartria y ataxia) durante una enfermedad febril. La afección se asocia con leucoencefalopatía reversible y un aumento persistente de la excreción urinaria (y, en algunos casos, de la concentración del líquido cefalorraquídeo), principalmente de alfa-cetoglutarato y N-acetilaspartato."},"it":{"name":"Leucoencefalopatia acuta reversibile con aumento di alfa-chetoglutarato nelle urine","synonyms":["Leucoencefalopatia acuta reversibile da deficit del trasportatore del dicarbossilato sodio-dipendente","Leucoencefalopatia acuta reversibile da deficit di SLC13A3"]},"nl":{"name":"Acute reversibele leuko-encefalopathie met verhoogd alfa-ketoglutaraat in urine","synonyms":["Acute reversibele leuko-encefalopathie door SLC13A3-deficiëntie","Acute reversibele leuko-encefalopathie door deficiëntie van natriumafhankelijke dicarboxylaattransporter"],"definition":"Een zeldzame neurometabole aandoening, gekenmerkt door acute, omkeerbare, en soms recidiverende neurologische achteruitgang (inclusief slaperigheid, hypotonie, dysartrie, en ataxie) tijdens een febriele ziekte. De aandoening is geassocieerd met omkeerbare leuko-encefalopathie en aanhoudend verhoogde excretie in urine (en soms concentratie in cerebrospinaal vocht) van vooral alfa-ketoglutaraat en N-acetylaspartaat."},"pt":{"name":"Leucoencefalopatia aguda reversível com aumento de alfa-cetoglutarato urinário","synonyms":["Leucoencefalopatia aguda reversível devido a deficiência SLC13A3","Leucoencefalopatia aguda reversível devido a deficiência do transportador dicarboxilato sódio-dependente"],"definition":"Doença neurometabólica rara caracterizada por deterioração neurológica aguda, reversível e, às vezes, recorrente (incluindo sonolência, hipotonia, disartria e ataxia) durante uma doença febril. A doença está associada à leucoencefalopatia reversível e à excreção urinária persistentemente aumentada (e, às vezes, à concentração do líquido cefalorraquidiano), principalmente de alfa-cetoglutarato e N-acetilaspartato."},"pl":{"name":"Ostra odwracalna leukoencefalopatia ze zwiększonym wydalaniem alfa-ketoglutaranu w moczu","synonyms":["Acute reversible leukoencephalopathy due to SLC13A3 deficiency","Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency"],"definition":"Rzadka choroba neurometaboliczna charakteryzująca się ostrym, odwracalnym i czasami nawracającym pogorszeniem neurologicznym (w tym sennością, hipotonią, dyzartrią i ataksją) podczas choroby gorączkowej. Schorzenie to wiąże się z odwracalną leukoencefalopatią i stale zwiększonym wydalaniem z moczem (a czasami zwiększonym stężeniem w płynie mózgowo-rdzeniowym) głównie alfa-ketoglutaranu i N-acetyloasparaginianu."},"cs":{"name":"Akutní reverzibilní leukoencefalopatie se zvýšenou hladinou alfa-ketoglutarátu v moči","synonyms":["Acute reversible leukoencephalopathy due to SLC13A3 deficiency","Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency"]},"uk":{"name":"Гостра оборотна лейкоенцефалопатія з підвищенням рівня альфа-кетоглутарату в сечі","synonyms":["Гостра оборотна лейкоенцефалопатія, спричинена дефіцитом SLC13A3","Гостра оборотна лейкоенцефалопатія внаслідок дефіциту натрійзалежного дикарбоксилатного транспортера"],"definition":"A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate."}},"xrefs":[{"source":"OMIM","code":"618384","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0032716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193068","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":254749,"name":"Tricarboxylic acid cycle disorder","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"38235040[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38235040[PMID]_ORPHANET"}],"phenotypes":null}