{"orpha":2394,"name":"Pyruvate dehydrogenase E3 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["DLD deficiency","Dihydrolipoamide dehydrogenase deficiency","E3-deficient maple syrup urine disease"],"definition":"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2394/","orphanet_url":"https://www.orpha.net/en/disease/detail/2394","names":{"fr":{"name":"Déficit en pyruvate déshydrogénase E3","synonyms":["Déficit en DLD","Déficit en dihydrolipoamide déshydrogénase","Leucinose avec déficit en E3","Maladie des urines sirop d'érable avec déficit en E3"],"definition":"Le déficit en pyruvate déshydrogénase E3 est un sous-type très rare de déficit en pyruvate déshydrogénase (DPDH) caractérisé soit par l'apparition précoce d'une acidose lactique et d'un retard de développement, soit par l'apparition plus tardive d'une déficience neurologique ou d'une atteinte hépatique."},"de":{"name":"Pyruvat-Dehydrogenase E3-Mangel","synonyms":["Ahornsirup-Krankheit, E3-defiziente","DLD-Mangel","Dihydro-Lipoamid-Dehydrogenase-Mangel"],"definition":"Der Pyruvat-Dehydrogenase-E3-Mangel ist ein sehr seltener Subtyp des Pyruvat-Dehydrogenase (PDH)-Mangels (PDHD, siehe dort) und gekennzeichnet entweder durch früh einsetzende Laktatazidose und verzögerte Entwicklung oder durch später einsetzende neurologische Funktionsstörung oder Lebererkrankung."},"es":{"name":"Deficiencia de piruvato deshidrogenasa E3","synonyms":["Deficiencia de DLD","Deficiencia de dihidrolipoamida deshidrogenasa","Enfermedad de jarabe de arce con deficiencia de E3"],"definition":"El déficit de piruvato deshidrogenasa E3 es un subtipo muy raro de déficit de piruvato deshidrogensas (PDHD, consulte este término) caracterizado bien por una acidosis láctica de inicio precoz y retraso en el desarrollo, una disfunción neurológica de inicio tardío o una enfermedad hepática."},"it":{"name":"Deficit di E3 della piruvato deidrogenasi","synonyms":["Deficit di DLD","Deficit di diidrolipoamide deidrogenasi","Malattia della urine a sciroppo d'acero con deficit di E3"],"definition":"Il deficit di E3 della piruvato deidrogenasi è un sottotipo molto raro del deficit della piruvato deidrogenasi (PDHD; si veda questo termine), caratterizzato da acidosi lattica e ritardo dello sviluppo ad esordio precoce, disfunzione neurologica o epatopatia ad esordio tardivo."},"nl":{"name":"Pyruvaatdehydrogenase E3-deficiëntie","synonyms":["DLD-deficiëntie","Deficiëntie van dihydrolipoamidedehydrogenase","E3-deficiënte ahornsiroopurineziekte","E3-deficiënte esdoornsiroopurineziekte","E3-deficiënte maple syrup urine disease"],"definition":"Pyruvaatdehydrogenase E3-deficiëntie is een zeer zeldzaam subtype van pyruvaatdehydrogenasedeficiëntie (PDHD, zie deze term), gekenmerkt door vroeg optredende lactaatacidose en een vertraagde ontwikkeling, en later optredende neurologische disfunctie of leverziekte."},"pt":{"name":"Deficiência E3 de piruvato desidrogenase","synonyms":["Deficiência de diidrolipoamida desidrogenase"],"definition":"Deficiência E3 de piruvato desidrogenase é um subtipo raro de deficiência de piruvato desidrogenase (PDHD, ver este termo), caracterizada ou por ocorrência precoce de acidose lática e atraso no desenvolvimento, disfunção neurológica de início mais tardio ou doença hepática."},"pl":{"name":"Niedobór dehydrogenazy pirogronianowej E3","synonyms":["Choroba syropu klonowego z deficytem E3","Niedobór dehydrogenazy dihydrolipoamidowej","Niedobór DLD"]},"cs":{"name":"Deficit pyruvátdehydrogenázy - deficit E3 podjednotky","synonyms":["Deficit DLD","Deficit dihydrolipoamiddehydrogenázy","Leucinóza - deficit E3 podjednotky","Nemoc javorového sirupu - deficit E3 podjednotky"]},"uk":{"name":"Дефіцит піруватдегідрогенази Е3","synonyms":["Дефіцит дигідроліпоаміддегідрогенази","Дефіцит DLD","Е3-дефіцитна хвороба сечі кленового сиропу"],"definition":"Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease."},"zh":{"name":"丙酮酸盐脱氢酶E3缺乏","synonyms":["双氢硫辛酰胺脱氢酶缺乏"]},"tr":{"name":"Piruvat dehidrojenaz E3 eksikliği","synonyms":["DLD eksikliği","E3 eksikliği olan akçaağaç şurubu idrar hastalığı","Dihidrolipoamid dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"246900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1948020523"},{"source":"MONDO","code":"0009529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3263","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":401854,"name":"Lipoic acid biosynthesis defect","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":765,"name":"Pyruvate dehydrogenase deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"DLD","name":"dihydrolipoamide dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24777537[PMID]","hgnc":"2898","ensembl":"ENSG00000091140","omim":"238331","loci":["7q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2017-07-12","source":"25032271[PMID]_23290025[PMID]","terms":[{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008344","label":"Elevated plasma branched chain amino acids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012402","label":"Increased urine alpha-ketoglutarate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030872","label":"Abnormal cardiac ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010913","label":"Hyperisoleucinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null}]}}