{"orpha":431361,"name":"Progressive encephalopathy with leukodystrophy due to DECR deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["2,4-dienoyl-CoA reductase deficiency","DECR deficiency with hyperlysinemia"],"definition":"Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-431361/","orphanet_url":"https://www.orpha.net/en/disease/detail/431361","names":{"fr":{"name":"Encéphalopathie progressive avec leucodystrophie par déficit en DECR","synonyms":["Déficit en 2,4-dienoyl-CoA réductase","Déficit en DECR avec hyperlysinémie"],"definition":"Le syndrome de porencéphalie-hypoplasie cérébelleuse-malformations internes est une maladie mitochondriale rare se manifestant par une hypotonie néonatale, des anomalies du système nerveux central (ventriculomégalie, hypoplasie du corps calleux, atrophie cérébelleuse), une microcéphalie acquise, un retard de croissance staturo-pondérale, un retard de développement et une acidose lactique intermittente, causée par une stress métabolique (par ex. une infection). Une hyperlysinémie et des taux élevés de carnitine C10 :2 peuvent être détectés dans le plasma. Ultérieurement, une épilepsie, une ataxie cérébelleuse, une acidose tubulaire rénale, une encéphalopathie sévère, une dystonie, une quadriplégie spastique et d'autres complications peuvent se développer."},"de":{"name":"Progressive Enzephalopathie mit Leukodystrophie durch DECR-Mangel","synonyms":["2,4-Dienoyl-CoA-Reductase-Mangel","DECR-Mangel mit Hyperlysinämie"],"definition":"Eine seltene mitochondriale Erkrankung, die sich mit neonataler Hypotonie, Anomalien des Zentralnervensystems (Ventrikulomegalie, Corpus-Callosum-Hypoplasie, Kleinhirnatrophie), erworbener Mikrozephalie, Gedeihstörung, Entwicklungsverzögerung und intermittierender Milchsäureazidose, die durch katabolen Stress (z. B. Infektion) hervorgerufen wird, präsentiert. Hyperlysinämie und erhöhtes C10:2-Carnitin können im Plasma nachgewiesen werden. Später können sich Epilepsie, zerebelläre Ataxie, renale tubuläre Azidose, schwere Enzephalopathie, Dystonie, spastische Tetraplegie und andere Komplikationen entwickeln."},"es":{"name":"Encefalopatía progresiva con leucodistrofia por deficiencia de DECR","synonyms":["Deficiencia de 2,4-dienoil-CoA reductasa","Deficiencia de DECR con hiperlisinemia"],"definition":"La encefalopatía progresiva con leucodistrofia por deficiencia de <i>DECR</i> es una enfermedad mitocondrial poco frecuente que se presenta con hipotonía neonatal, anomalías del sistema nervioso central (ventriculomegalia, hipoplasia del cuerpo calloso, atrofia cerebelosa), microcefalia adquirida, falta de crecimiento, retraso del desarrollo y acidosis láctica intermitente provocada por estrés catabólico (por ejemplo, infección). La hiperlisinemia y la elevación de C10:2 carnitina pueden ser detectadas en plasma. Durante el curso de la enfermedad, también puede desarrollarse epilepsia, ataxia cerebelosa, acidosis renal tubular, encefalopatía severa, distonía, tetraplejía espástica y otras complicaciones."},"it":{"name":"Encefalopatia progressiva con leucodistrofia da deficit di DECR","synonyms":["Deficit di 2,4-dienoil-CoA reduttasi","Deficit di DECR con iperlisinemia"],"definition":"L'encefalopatia progressiva con leucodistrofia da deficit di DECR è una malattia rara dei mitocondri, caratterizzata da ipotonia neonatale, anomalie del sistema nervoso centrale (ventricolomegalia, ipoplasia del corpo calloso, atrofia cerebellare), microcefalia acquisita, ritardo della crescita e dello sviluppo e acidosi lattica intermittente secondaria ad uno stress catabolico (ad esempio, da infezioni). Si associa a iperlisinemia e a livelli elevati di C10:2 carnitina nel plasma. In seguito, i pazienti possono sviluppare epilessia, atassia cerebellare, acidosi tubulare renale, encefalopatia grave, distonia, quadriplegia spastica e altre complicanze."},"nl":{"name":"Progressieve encefalopathie met leukodystrofie door DECR-deficiëntie","synonyms":["2,4-dienoyl-CoA-reductasedeficiëntie","DECR-deficiëntie met hyperlysinemie"],"definition":"Progressieve encefalopathie met leukodystrofie door DECR-deficiëntie is een zeldzame mitochondriale ziekte die zich manifesteert met neonatale hypotonie, afwijkingen van het centrale zenuwstelsel (ventriculomegalie, hypoplasie van het corpus callosum, cerebellaire atrofie), verworven microcefalie, groeiachterstand, ontwikkelingsachterstand en intermitterende lactaatacidose uitgelokt door katabole stress (e.g. infectie). In het plasma kunnen hyperlysinemie en verhoogd C10:2-carnitine gedetecteerd worden. Later kunnen epilepsie, cerebellaire ataxie, renale tubulaire acidose, ernstige encefalopathie, dystonie, spastische quadriplegie en andere complicaties ontwikkelen."},"pt":{"name":"Encefalopatia progressiva com leucodistrofia por défice de DECR"},"pl":{"name":"Postępująca encefalopatia z leukodystrofią spowodowaną niedoborem DECR","synonyms":["Niedobór DECR z hiperlizynemią","Niedobór reduktazy 2,4-dienoilo-CoA"]},"cs":{"name":"Progresivní encefalopatie s leukodystrofií způsobená deficitem DECR","synonyms":["Deficit 2,4-dienoyl-CoA reduktázy","Deficit DECR s hyperlysinemií"]},"uk":{"name":"Прогресуюча енцефалопатія з лейкодистрофією, зумовлена дефіцитом DECR","synonyms":["Дефіцит 2,4-дієнозил-КоА-редуктази","Дефіцит DECR з гіперлізинемією"],"definition":"Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop."},"zh":{"name":"DECR缺乏所致进行性脑病伴脑白质营养不良","synonyms":["2,4-二烯酰辅酶A还原酶缺乏症"],"definition":"由DECR缺乏引起的合并白质营养不良的进行性脑病是一种罕见的线粒体疾病，其表现为新生儿肌张力低下，中枢神经系统异常（脑室肥大，胼胝体发育不全，小脑萎缩），获得性小头畸形，发育停滞，发育迟缓和分解应激诱发的间歇性乳酸性酸中毒（例如感染）。高赖氨酸血症和血浆C10：2肉毒碱升高。后期可能会出现癫痫，小脑性共济失调，肾小管性酸中毒，严重脑病，肌张力障碍，痉挛性四肢瘫痪等并发症。"},"tr":{"name":"DECR eksikliğine bağlı lökodistrofi ile seyreden ilerleyici ensefalopati","synonyms":["Hiperlizinemi ile seyreden DECR eksikliği","2,4-dienoil-CoA redüktaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"616034","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014464","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565624","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857252","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10327","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NADK2","name":"NAD kinase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24847004[PMID]","hgnc":"26404","ensembl":"ENSG00000152620","omim":"615787","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24847004[PMID]_2332510[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24847004[PMID]_2332510[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-14","source":"24847004[PMID]_2332510[PMID]","terms":[{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010967","label":"Abnormal circulating carnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003206","label":"Decreased activity of NADPH oxidase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002161","label":"Hyperlysinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002470","label":"Nonprogressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001992","label":"Organic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004897","label":"Stress/infection-induced lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}