{"orpha":79243,"name":"Pyruvate dehydrogenase E1-alpha deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PDHAD","Pyruvate decarboxylase deficiency","Pyruvate dehydrogenase complex E1 component subunit alpha deficiency"],"definition":"A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79243/","orphanet_url":"https://www.orpha.net/en/disease/detail/79243","names":{"fr":{"name":"Déficit en pyruvate déshydrogénase E1-alpha","synonyms":["Déficit en pyruvate décarboxylase","Déficit en sous-unité E1 alpha du complexe pyruvate déshydrogénase","PDHAD"],"definition":"Le déficit en pyruvate déshydrogénase E1-alpha est la forme la plus répandue de déficit en pyruvate déshydrogénase (DPDH). Il est caractérisé par une acidose lactique variable, des troubles du développement psychomoteur, une hypotonie et une déficience neurologique."},"de":{"name":"Pyruvat-Dehydrogenase E1-alpha-Mangel","synonyms":["E1-alpha-Untereinheit-Mangel des PDH-Komplex","PDHAD","Pyruvat-Decarboxylase-Mangel"],"definition":"Der Pyruvat-Dehydrogenase-E1-alpha-Mangel ist die häufigste Form des Pyruvat-Dehydrogenase-Mangels (PDHD; s. dort) und gekennzeichnet durch unterschiedlich schwere Laktatazidose, gestörte psychomotorische Entwicklung, Muskelhypotonie und neurologische Funktionsstörungen."},"es":{"name":"Deficiencia de piruvato deshidrogenasa E1-alfa","synonyms":["Deficiencia de piruvato descarboxilasa","Deficiencia de subunidad E1 alfa del complejo piruvato deshidrogenasa","PDHAD"],"definition":"Es la forma más frecuente de déficit de piruvato deshidrogenasa (PDHD, por sus siglas en inglés) caracterizado por una acidosis láctica variable, problemas de desarrollo psicomotor, hipotonía y disfunción neurológica."},"it":{"name":"Deficit di E1-alfa della piruvato deidrogenasi","synonyms":["Deficit della piruvato decarbossilasi","Deficit della subunità alfa della componente E1 della piruvato deidrogenasi","PDHAD"],"definition":"Il deficit di E1-alfa piruvato deidrogenasi è la forma più frequente di deficit della piruvato deidrogenasi (PDHD; si veda questo termine), caratterizzata da acidosi lattica variabile, anomalie dello sviluppo psicomotorio, ipotonia e disfunzione neurologica."},"nl":{"name":"Pyruvaatdehydrogenase E1-alfa-deficiëntie","synonyms":["Deficiëntie van component E1-alfa van het pyruvaatdehydrogenasecomplex","PDHAD","Pyruvaatdecarboxylasedeficiëntie"],"definition":"De meest frequente vorm van pyruvaatdehydrogenasedeficiëntie (PDHD), gekarakteriseerd door variabele lactaatacidose, verstoorde psychomotorische ontwikkeling, hypotonie en neurologische disfunctie."},"pt":{"name":"Deficiência de piruvato desidrogenase E1-alfa","synonyms":["Deficiência de E1"],"definition":"A deficiência da subunidade alfa-E1 de piruvato desidrogenase é a forma mais frequente de deficiência de piruvato desidrogenase (PDHD, ver este termo), caracterizada por acidose láctica variável, atraso do desenvolvimento psicomotor, hipotonia e disfunção neurológica."},"pl":{"name":"Niedobór dehydrogenazy pirogronianowej E1-alfa","synonyms":["Niedobór dehydrogenazy pirogronianowej","Niedobór dehydrogenazy pirogronianowej kompleksu E1 komponentu podjednostki alfa","PDHAD"]},"cs":{"name":"Deficit pyruvátdehydrogenázy E1-alfa","synonyms":["PDHAD","Deficit pyruvát dekarboxylázy","Deficit alfa podjednotky E1 komponenty pyruvát dehydrogenázového komplexu"]},"uk":{"name":"Дефіцит піруватдегідрогенази Е1-альфа","synonyms":["PDHAD","Дефіцит піруватдекарбоксилази","Дефіцит альфа-субодиниці комплексу піруватдегідрогенази Е1"],"definition":"A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction."},"zh":{"name":"丙酮酸脱氢酶E1-α缺陷症","synonyms":["丙酮酸脱氢酶复合物E1组分亚基α缺乏症"]},"tr":{"name":"Pirüvat dehidrojenaz E1-alfa eksikliği","synonyms":["PDHAD","Piruvat dekarboksilaz eksikliği","Piruvat dehidrojenaz kompleksi E1 bileşeni alt birim alfa eksikliği"]}},"xrefs":[{"source":"OMIM","code":"312170","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":"1253259207"},{"source":"MONDO","code":"0010717","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564071","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839413","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4620","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":"LONP1","name":"lon peptidase 1, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30304514[PMID]","hgnc":"9479","ensembl":"ENSG00000196365","omim":"605490","loci":["19p13.2"]},{"symbol":"PDHA1","name":"pyruvate dehydrogenase E1 subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10679936[PMID]_15384102[PMID]_20002461[PMID]","hgnc":"8806","ensembl":"ENSG00000131828","omim":"300502","loci":["Xp22.12"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"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":"2020-10-08","source":"1528021[PMID]_28584645[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:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025361","label":"Abnormality of medullary pyramid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004902","label":"Congenital lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011196","label":"EEG with focal sharp waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011199","label":"EEG with generalized sharp slow waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003542","label":"Increased circulating pyruvate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030917","label":"Low APGAR score","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006799","label":"Basal ganglia cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006999","label":"Basal ganglia gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012128","label":"Basal ganglia necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002350","label":"Cerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012698","label":"Cerebellar gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010576","label":"Intracranial cystic lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}