{"orpha":255182,"name":"Pyruvate dehydrogenase E3-binding protein deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["2-oxoglutarate complex deficiency","Branched chain alpha-ketoacid dehydrogenase complex deficiency","Diaphorase deficiency","Dihydrolipoyl dehydrogenase deficiency","Glycine cleavage system L protein deficiency","Lipoamide dehydrogenase deficiency","Pyruvate dehydrogenase complex component E3 deficiency","Pyruvate dehydrogenase protein X component deficiency"],"definition":"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-255182/","orphanet_url":"https://www.orpha.net/en/disease/detail/255182","names":{"fr":{"name":"Déficit en protéine de liaison E3 du complexe pyruvate déshydrogénase","synonyms":["Déficit en complexe 2-oxoglutarate","Déficit en complexe déshydrogénase des alpha-cétoacides à chaînes ramifiées","Déficit en composé E3 du complexe pyruvate déshydrogénase","Déficit en diaphorase","Déficit en dihydrolipoyl déshydrogénase","Déficit en lipoamide déshydrogénase","Déficit en protéine L du système de clivage de la glycine","Déficit en protéine X du complexe pyruvate déshydrogénase"],"definition":"Le déficit en protéine de liaison E3 du complexe pyruvate déshydrogénase est une forme rare et modérée de déficit en pyruvate déshydrogénase caractérisée par une acidose lactique variable et une déficience neurologique."},"de":{"name":"Pyruvat-Dehydrogenase-E3-bindendes Protein-Mangel","synonyms":["2-Oxo-Glutarat-Komplex-Mangel","Diaphorase-Mangel","Dihydrolipoamid-Dehydrogenase-bindendes Protein-Mangel des Pyruvat-Dehydrogenase-Komplex","Dihydrolipoyl-Dehydrogenase-Mangel","GCSL-Mangel","Lipoamid-Dehydrogenase-Mangel","Pyruvat-Dehydrogenase-Protein-X-Komponenten-Mangel","Verzweigtkettige-alpha-Ketosäuren-Dehydrogenase-Komplex-Mangel"],"definition":"Der Mangel des Pyruvat-Dehydrogenase-E3-bindenden Proteins ist eine sehr seltene milde Form des Pyruvat-Dehydrogenase (PDH)-Mangels (PDHD, s. dort) und gekennzeichnet durch unterschiedlich schwere Laktatazidose und neurologische Funktionsstörungen."},"es":{"name":"Deficiencia de la proteína de unión E3 de la piruvato deshidrogenasa","synonyms":["Deficiencia de diaforasa","Deficiencia de dihidrolipoil deshidrogenasa","Deficiencia de lipoamida deshidrogenasa","Deficiencia de proteína X del complejo piruvato deshidrogenasa","Deficiencia del complejo 2-oxo-glutarato","Deficiencia del complejo de deshidrogenasas de cetoácidos de cadena ramificada","Deficiencia del componente E3 del complejo piruvato deshidrogenasa","Deficiencia en la proteína L del sistema de clivaje de la glicina"],"definition":"El déficit de la proteína de unión E3 del complejo piruvato deshidrogenasa es una forma rara y leve de déficit de piruvato deshidrogenasa (PDHD, consulte este término) caracterizada por acidosis láctica variable y disfunción neurológica."},"it":{"name":"Deficit della proteina legante E3 della piruvato deidrogenasi","synonyms":["Deficit del complesso 2-oxo-glutarato","Deficit del complesso della chetoacido deidrogenasi a catena ramificata","Deficit della componente E3 del complesso della piruvato deidrogenasi","Deficit della componente proteica X della piruvato deidrogenasi","Deficit della proteina L del sistema di clivaggio della glicina","Deficit di diaforasi","Deficit di diidrolipoil deidrogenasi","Deficit di lipoamide deidrogenasi"],"definition":"Il deficit della proteina legante E3 della piruvato deidrogenasi è una rara forma lieve del deficit della piruvato deidrogenasi (PDHD; si veda questo termine), caratterizzata da acidosi lattica e disfunzione neurologica di gravità variabile."},"nl":{"name":"Pyruvaatdehydrogenase E3-bindend proteïnedeficiëntie","synonyms":["2-oxo-glutaraatcomplexdeficiëntie","Diaforasedeficiëntie","Dihydrolipoyldehydrogenasedeficiëntie","Glycine-cleavagesysteem L-proteïnedeficiëntie","Lipoamidedehydrogenasedeficiëntie","Pyruvaatdehydrogenase proteïne X-componentdeficiëntie","Pyruvaatdehydrogenasecomplex component E3-deficiëntie","Vertakte keten-ketozuurdehydrogenasecomplexdeficiëntie"],"definition":"Pyruvaatdehydrogenase E3-bindend proteïnedeficiëntie is een zeldzame lichte vorm van pyruvaatdehydrogenasedeficiëntie (PDHD, zie deze term), gekenmerkt door variabele melkzuuracidose en neurologische disfunctie."},"pt":{"name":"Deficiência de proteína de ligação E3 da piruvato desidrogenase","synonyms":["Deficiência da proteína de ligação a E3","Deficiência de componente X da proteína da piruvato desidrogenase","Deficiência do componente X do complexo desidrogenase piruvato contendo lipoil","Proteína de ligação de dihidrolipoamido desidrogenase do complexo desidrogenase-piruvato"],"definition":"A deficiência da proteína de ligação E3 de piruvato desidrogenase é uma forma leve e rara de deficiência de piruvato desidrogenase (PDHD, ver este termo), caracterizada por acidose láctica variável e disfunção neurológica."},"pl":{"name":"Niedobór białka wiążącego E3 dehydrogenazy pirogronianowej","synonyms":["Dihydrolipoyl dehydrogenase deficiency","Glycine cleavage system L protein deficiency","Niedobór dehydrogenazy lipamidowej","Niedobór diaforazy","Niedobór kompleksu 2-oksoglutarowego","Niedobór kompleksu dehydrogenazy rozgałęzionych łańcuchów alfa-ketokwasów","Niedobór składnika białka X dehydrogenazy pirogronianowej","Niedobór składnika kompleksu E dehydrogenazy pirogronianowej"]},"cs":{"name":"Deficit E3-binding proteinu pyruvát dehydrogenázy","synonyms":["Deficit komplexu 2-oxoglutarátu","Deficit diaforázy","Deficit dihydrolipoyl dehydrogenázy","Deficit lipoamid dehydrogenázy","Deficit komponenty E3 komplexu pyruvát dehydrogenázy","Deficit komponenty proteinu X pyruvát dehydrogenázy","Deficit komplexu dehydrogenázy rozvětveného řetězce alfa-ketokyselin","Deficit proteinu L v systému štěpení glycinu"]},"uk":{"name":"Дефіцит E3-звязуючого білка піруватдегідрогенази","synonyms":["Дефіцит 2-оксоглутаратного комплексу","Дефіцит альфа-кетокислотного дегідрогеназного комплексу з розгалуженим ланцюгом","Дефіцит діафорази","Дефіцит дигідроліпоїлдегідрогенази","Дефіцит білка системи розщеплення гліцину L","Дефіцит ліпоаміддегідрогенази","Дефіцит компонента Е3 піруватдегідрогеназного комплексу","Дефіцит компонента протеїну Х піруватдегідрогенази"],"definition":"Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction."},"zh":{"name":"丙酮酸脱氢酶E3结合蛋白缺陷病","synonyms":["支链α-酮酸脱氢酶复合物缺乏症"],"definition":"丙酮酸脱氢酶E3结合蛋白缺乏症是一种罕见的轻度丙酮酸脱氢酶缺乏症(PDHD，见该词条)，以程度不一的乳酸酸中毒和神经功能障碍为特征。"},"tr":{"name":"Piruvat dehidrojenaz E3 bağlayıcı protein eksikliği","synonyms":["Diyaforaz eksikliği","2-oksoglutarat kompleks eksikliği","Lipoamid dehidrojenaz eksikliği","Dihidrolipoyil dehidrogenaz eksikliği","Glisin yarıklanma sistemi L protein eksikliği","Piruvat dehidrogenaz protein X bileşen eksikliği","Piruvat dehidrojenaz kompleks bileşeni E3 eksikliği","Dallı zincirli alfa-ketoasit dehidrojenaz kompleksi eksikliği"]}},"xrefs":[{"source":"OMIM","code":"245349","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":"1340729972"},{"source":"MONDO","code":"0009503","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565447","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855553","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":765,"name":"Pyruvate dehydrogenase deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"PDHX","name":"pyruvate dehydrogenase complex component X","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9399911[PMID]","hgnc":"21350","ensembl":"ENSG00000110435","omim":"608769","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2020-10-14","source":"25087164[PMID]_22079328[PMID]","terms":[{"hpo":"HP:0500231","label":"Abnormal CSF pyruvate family amino acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010915","label":"Abnormal circulating pyruvate family amino acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002928","label":"Decreased activity of the pyruvate dehydrogenase complex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007109","label":"Periventricular cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}