{"orpha":79244,"name":"Pyruvate dehydrogenase E2 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency","Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency","Pyruvate dehydrogenase complex component E2 deficiency"],"definition":"A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79244/","orphanet_url":"https://www.orpha.net/en/disease/detail/79244","names":{"fr":{"name":"Déficit en pyruvate déshydrogénase E2","synonyms":["Déficit en acétyltransférase des résidus dihydrolipoyllysine du complexe pyruvate déshydrogénase","Déficit en composé E2 du complexe pyruvate déshydrogenase","Déficit en composé dihydrolipoamide acétyltransférase du complexe pyruvate déshydrogénase"],"definition":"Le déficit en pyruvate déshydrogénase est une forme très rare de déficit en pyruvate déshydrogénase (DPDH) caractérisée par une acidose lactique variable et une déficience neurologique dont l'apparition se fait généralement pendant l'enfance."},"de":{"name":"Pyruvat-Dehydrogenase E2-Mangel","synonyms":["Dihydrolipoamid-S-Acetyltransferase-Mangel","PDH-E2-Mangel"],"definition":"Der Pyruvat-Dehydrogenase-E2-Mangel ist eine sehr seltene Form des Pyruvat-Dehydrogenase-Mangels (PDHD, s. dort) und gekennzeichnet durch unterschiedlich schwere Laktatazidose und neurologische Funktionsstörungen, die hauptsächlich im Kindesalter auftreten."},"es":{"name":"Deficiencia de piruvato deshidrogenasa E2","synonyms":["Deficiencia de componente E2 del complejo piruvato deshidrogenasa","Deficiencia de componente dihidrolipoamida acetiltransferasa del complejo piruvato deshidrogenasa","Deficiencia de componente dihidrolipoil-lisina-residuo acetiltransferasa del complejo piruvato deshidrogenasa","Deficiencia de dihidrolipoamida acetiltransferasa del complejo piruvato deshidrogenasa","Deficiencia del componente E2 del complejo piruvato deshidrogenasa"],"definition":"Es una forma muy rara de déficit de piruvato deshidrogenasa (PDHD, por sus siglas en inglés) caracterizada por acidosis láctica variable y disfunción neurológica, y que fundamentalmente aparece en a infancia."},"it":{"name":"Deficit di E2 della piruvato deidrogenasi","synonyms":["Deficit dell'acetiltransferasi del residuo di diidrolipoilisina, componente del complesso della piruvato deidrogenasi","Deficit della componente E2 del complesso della piruvato deidrogenasi","Deficit della diidrolipoamide acetiltransferasi, componente del complesso della piruvato deidrogenasi"],"definition":"Il deficit di E2 della piruvato deidrogenasi è una forma molto rara di deficit della piruvato deidrogenasi (PDHD; si veda questo termine), caratterizzata da acidosi lattica e disfunzione neurologica di gravità variabile, che si manifestano soprattutto durante l'infanzia."},"nl":{"name":"Pyruvaatdehydrogenase E2-deficiëntie","synonyms":["Deficiëntie van component E2 van het pyruvaatdehydrogenasecomplex","Deficiëntie van de dihydrolipoamide-acetyltransferasecomponent van het pyruvaatdehydrogenasecomplex","Deficiëntie van de dihydrolipoyllysineresidu-acetyltransferasecomponent van het pyruvaatdehydrogenasecomplex"],"definition":"Een zeer zeldzame vorm van pyruvaatdehydrogenasedeficiëntie (PDHD), gekarakteriseerd door variabele lactaatacidose en neurologische disfunctie, die voornamelijk optreden tijdens de kindertijd."},"pt":{"name":"Deficiência de piruvato desidrogenase E2","synonyms":["Deficiência da subunidade E2 de piruvato desidrogenase"],"definition":"A deficiência da subunidade E2 de piruvato desidrogenase é uma forma muito rara de deficiência de piruvato desidrogenase (PDHD, ver este termo), caracterizada por acidose láctica e disfunção neurológica variáveis, que aparecem principalmente durante a infância."},"pl":{"name":"Niedobór dehydrogenazy pirogronianowej E2","synonyms":["Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency","Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency","Niedobór dehydrogenazy pirogronianowej kompleksu komponentu E2"]},"cs":{"name":"Deficit pyruvátdehydrogenázy E2","synonyms":["Deficit dihydrolipoamid-acetyltransferázového komponentu komplexu pyruvátdehydrogenázy","Deficit dihydrolipoyllysinového-acetyltransferázového komponentu komplexu pyruvátdehydrogenázy","Deficit komponenty E2 komplexu pyruvátdehydrogenázy"]},"uk":{"name":"Дефіцит піруватдегідрогенази Е2","synonyms":["Дефіцит дигідроліпоамідацетилтрансфераза - компонента піруватдегідрогеназного комплексу","Дефіцит дигідроліпоілізин-залишкового ацетилтрансферазного компонента піруватдегідрогеназного комплексу","Дефіцит компонента Е2 піруватдегідрогеназного комплексу"],"definition":"A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood."},"zh":{"name":"丙酮酸脱氢酶E2-α缺陷症","synonyms":["丙酮酸脱氢酶复合物二氢脂酰胺乙酰转移酶组分缺乏"]},"tr":{"name":"Pirüvat dehidrojenaz E2 eksikliği","synonyms":["Piruvat dehidrojenaz kompleksi eksikliğinin dihidrolipoililizin kalıntı asetiltransferaz bileşeni","Piruvat dehidrojenaz kompleks bileşeni E2 eksikliği","Piruvat dehidrojenaz kompleksi eksikliğinin dihidrolipoamid asetiltransferaz bileşeni"]}},"xrefs":[{"source":"OMIM","code":"245348","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":"1626957624"},{"source":"MONDO","code":"0009502","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855565","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":"DLAT","name":"dihydrolipoamide S-acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16049940[PMID]","hgnc":"2896","ensembl":"ENSG00000150768","omim":"608770","loci":["11q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"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":"2020-10-13","source":"29093066[PMID]_20022530[PMID]","terms":[{"hpo":"HP:0500231","label":"Abnormal CSF pyruvate family amino acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100503","label":"Low levels of vitamin B1","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031960","label":"Arm dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025335","label":"Delayed ability to stand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002454","label":"Eye of the tiger anomaly of globus pallidus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031139","label":"Frog-leg posture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002180","label":"Neurodegeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002268","label":"Paroxysmal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005656","label":"Positional foot deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}