{"orpha":228308,"name":"Carnitine palmitoyl transferase II deficiency, neonatal form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CPT2, lethal systemic form","CPT2, neonatal form","CPTII, lethal systemic form","CPTII, neonatal form","Carnitine palmitoyl transferase II deficiency, lethal systemic form","Carnitine palmitoyl transferase deficiency type 2, lethal systemic form","Carnitine palmitoyl transferase deficiency type 2, neonatal form"],"definition":"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228308/","orphanet_url":"https://www.orpha.net/en/disease/detail/228308","names":{"fr":{"name":"Déficit en carnitine palmitoyltransférase II, forme néonatale","synonyms":["CPT2 forme néonatale","CPT2 forme systémique létale","CPTII forme néonatale","CPTII forme systémique létale","Déficit en carnitine palmitoyltransférase II, forme systémique létale","Déficit en carnitine palmitoyltransférase type 2, forme néonatale","Déficit en carnitine palmitoyltransférase type 2, forme systémique létale"],"definition":"La forme néonatale du déficit en carnitine palmitoyl transférase II , une maladie métabolique héréditaire qui affecte l'oxydation mitochondriale des acides gras à longues chaînes (AGLC), est la forme létale de la maladie qui se caractérise par une défaillance multisystémique."},"de":{"name":"Carnitin-Palmitoyl-Transferase II-Mangel, neonatale Form","synonyms":["CPTII, neonatale Form","Carnitin-Palmitoyl-Transferase II-Mangel, letale systemische Form","Carnitin-Palmitoyl-Transferase-Mangel Typ 2, letale systemische Form","Carnitin-Palmitoyl-Transferase-Mangel Typ 2, neonatale Form","CPT2, letale systemische Form","CPT2, neonatale Form","CPTII, letale systemische Form"],"definition":"Die neonatale Form des Carnitin-Palmitoyltransferase-II (CPT II)-Mangels (s. dort), eines erblichen Stoffwechseldefektes in der mitochondrialen Oxidation der langkettigen Fettsäuren (LCFA), ist die letale Form dieser Krankheit und wird mit Multiorganversagen manifest."},"es":{"name":"Deficiencia de carnitina palmitoiltransferasa II, forma neonatal","synonyms":["CPT2, forma neonatal","CPT2, forma sistémica letal","CPTII, forma neonatal","CPTII, forma sistémica letal","Deficiencia de carnitina palmitoiltransferasa II, forma sistémica letal","Deficiencia de carnitina palmitoiltransferasa tipo 2, forma neonatal","Deficiencia de carnitina palmitoiltransferasa tipo 2, forma sistémica letal"],"definition":"La forma neonatal del déficit de carnitina palmitoiltransferasa II (CPT II) (consulte este término), un trastorno hereditario que afecta a la oxidación mitocondrial de los ácidos grasos de cadena larga (AGCL), es la forma mortal de la enfermedad y se presenta con fallo multisistémico."},"it":{"name":"Deficit di carnitina-palmitoil transferasi II, forma neonatale","synonyms":["CPT2, forma neonatale","CPT2, forma sistemica letale","CPTII, forma neonatale","CPTII, forma sistemica letale","Deficit di carnitina-palmitoil transferasi II, forma sistemica letale","Deficit di carnitina-palmitoil transferasi tipo 2, forma neonatale","Deficit di carnitina-palmitoil transferasi tipo 2, forma sistemica letale"],"definition":"La forma neonatale letale del deficit di carnitina palmitoil transferasi II (CPT II; si veda questo termine) è una malattia ereditaria che interessa l'ossidazione mitocondriale degli acidi grassi a catena lunga (LCFA) ed è caratterizzata da un'insufficienza multisistemica."},"nl":{"name":"Carnitinepalmitoyltransferase II-deficiëntie, neonatale vorm","synonyms":["CPT2, dodelijke systemische vorm","CPT2, neonatale vorm","CPTII, dodelijke systemische vorm","CPTII, neonatale vorm","Carnitinepalmitoyltransferase II-deficiëntie, letale systemische vorm","Carnitinepalmitoyltransferasedeficiëntie type 2, letale systemische vorm","Carnitinepalmitoyltransferasedeficiëntie type 2, neonatale vorm"],"definition":"De neonatale vorm van carnitinepalmitoyltransferase II (CPT II)-deficiëntie, een erfelijke aandoening die mitochondriale oxidatie van langeketenvetzuren (LCFA) verstoort, is de letale vorm van de ziekte die zich presenteert met multisysteemfalen."},"pt":{"name":"Deficiência da carnitina-palmitoil transferase 2, forma neonatal"},"pl":{"name":"Niedobór palmitylotransferazy karnityny II, postać noworodkowa","synonyms":["CPT2, postać noworodkowa","CPT2, śmiertelna postać układowa","CPTII, postać noworodkowa","CPTII, śmiertelna postać układowa","Niedobór palmitylotransferazy karnityny II, śmiertelna postać układowa","Niedobór palmitylotransferazy karnityny typu 2, postać noworodkowa","Niedobór palmitylotransferazy karnityny typu 2, śmiertelna postać układowa"]},"cs":{"name":"Deficit karnitinpalmitoyltransferázy II, neonatální forma","synonyms":["CPT2, letální systémová forma","CPT2, neonatální forma","CPTII, letální systémová forma","CPTII, neonatální forma","Deficit karnitin palmitoyltransferázy II, letální systémová forma","Deficit karnitinpalmitoyltransferázy 2, letální systémová forma","Deficit karnitin palmitoyltransferázy 2, neonatální forma"]},"uk":{"name":"Дефіцит карнітинпальмітоілтрансферази II, неонатальна форма","synonyms":["Дефіцит карнітинпальмітоїлтрансферази 2 типу, летальна системна форма","Дефіцит карнітинпальмітоїлтрансферази 2 типу, неонатальна форма","Дефіцит карнітинпальмітоїлтрансферази II, летальна системна форма","СРТ2, летальна системна форма","CPT2, неонатальна форма","CPTII, летальна системна форма","CPTII, неонатальна форма"],"definition":"The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure."},"zh":{"name":"新生儿型肉碱棕榈酰转移酶II缺乏症","synonyms":["致死性系统性肉碱棕榈酰转移酶缺乏症2型"],"definition":"肉毒碱棕榈酰转移酶II（CPT II）缺乏症（见该词条）新生儿型，是一种影响长链脂肪酸（LCFA）线粒体氧化过程的遗传性疾病，以多系统衰竭为特征，是该病的致死性表现。"},"tr":{"name":"Karnitin palmitoil transferaz II eksikliği, yenidoğan formu","synonyms":["CPT2, yenidoğan formu","CPTII, yenidoğan formu","CPT2, letal sistemik form","CPTII, letal sistemik form","Karnitin palmitoil transferaz eksikliği tip 2, yenidoğan formu","Karnitin palmitoil transferaz II eksikliği, letal sistemik form","Karnitin palmitoil transferaz eksikliği tip 2, letal sistemik form"]}},"xrefs":[{"source":"OMIM","code":"608836","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1280842213"},{"source":"MONDO","code":"0012136","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833518","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":157,"name":"Carnitine palmitoyltransferase II deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"CPT2","name":"carnitine palmitoyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2330","ensembl":"ENSG00000157184","omim":"600650","loci":["1p32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"20301431[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301431[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-17","source":"20301431[PMID]_28054946[PMID]_11477613[PMID]_18550408[PMID]","terms":[{"hpo":"HP:0008315","label":"Decreased plasma free carnitine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011936","label":"Decreased plasma total carnitine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040320","label":"Red-brown urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012380","label":"Reduced carnitine O-palmitoyltransferase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000800","label":"Cystic renal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003215","label":"Dicarboxylic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006559","label":"Hepatic calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007229","label":"Intracerebral periventricular calcifications","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008682","label":"Renal tubular epithelial necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}