{"orpha":228305,"name":"Carnitine palmitoyl transferase II deficiency, severe infantile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CPTII, severe infantile form","Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form","Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form","Carnitine palmitoyl transferase deficiency type 2, severe infantile form","CPT2, hepatocardiomuscular form","CPT2, severe infantile form","CPTII, hepatocardiomuscular form"],"definition":"The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228305/","orphanet_url":"https://www.orpha.net/en/disease/detail/228305","names":{"fr":{"name":"Déficit en carnitine palmitoyltransférase II, forme infantile sévère","synonyms":["CPT2 forme hépatocardiomusculaire","CPT2 forme infantile sévère","CPTII forme hépatocardiomusculaire","CPTII forme infantile sévère","Déficit en carnitine palmitoyltransférase II, forme hépatocardiomusculaire","Déficit en carnitine palmitoyltransférase type 2, forme hépatocardiomusculaire","Déficit en carnitine palmitoyltransférase type 2, forme infantile sévère"],"definition":"La forme infantile du déficit en carnitine palmitoyl transférase II (CPTII), une maladie métabolique héréditaire qui affecte l'oxydation mitochondriale des acides gras à longues chaînes (AGLC), constitue la forme à début précoce du déficit en CPTII."},"de":{"name":"Carnitin-Palmitoyl-Transferase II-Mangel, schwere infantile Form","synonyms":["CPT2, hepatokardiomuskuläre Form","CPT2, schwere infantile Form","CPTII, hepatokardiomuskuläre Form","CPTII, schwere infantile Form","Carnitin-Palmitoyl-Transferase II-Mangel, hepatokardiomuskuläre Form","Carnitin-Palmitoyl-Transferase-Mangel Typ 2, hepatokardiomuskuläre Form","Carnitin-Palmitoyl-Transferase-Mangel Typ 2, schwere infantile Form"],"definition":"Die schwere infantile Form des Carnitin-Palmitoyltransferase-II (CPT II)-Mangels (s. dort), eines erblichen Stoffwechseldefektes in der mitochondrialen Oxidation der langkettigen Fettsäuren (LCFA), ist die früh-manifestierte Form dieser Krankheit."},"es":{"name":"Deficiencia de carnitina palmitoiltransferasa II, forma grave infantil","synonyms":["CPT2, forma grave infantil","CPT2, forma hepatocardiomuscular","CPTII, forma grave infantil","CPTII, forma hepatocardiomuscular","Deficiencia de carnitina palmitoiltransferasa II, forma hepatocardiomuscular","Deficiencia de carnitina palmitoiltransferasa tipo 2, forma grave infantil","Deficiencia de carnitina palmitoiltransferasa tipo 2, forma hepatocardiomuscular"],"definition":"La forma infantil grave del déficit de carnitina palmitoiltransferasa II (CPTII) (ver este término), enfermedad hereditaria que afecta a la oxidación mitocondrial de los ácidos grasos de cadena larga (AGCL), es la forma de aparición temprana de la enfermedad."},"it":{"name":"Deficit di carnitina-palmitoil transferasi II, forma infantile grave","synonyms":["CPT2, forma epato-cardio-muscolare","CPT2, forma infantile grave","CPTII, forma epato-cardio-muscolare","CPTII, forma infantile grave","Deficit di carnitina-palmitoil transferasi II, forma epato-cardio-muscolare","Deficit di carnitina-palmitoil transferasi tipo 2, forma infantile grave","Deficit di carnitina-palmitoil transferasi tipo 2, tipo epato-cardio-muscolare"],"definition":"La forma infantile grave, a esordio precoce, del deficit di carnitina palmitoil transferasi II (CPTII; si veda questo termine) è una malattia ereditaria che interessa l'ossidazione mitocondriale degli acidi grassi a catena lunga (LCFA)."},"nl":{"name":"Carnitinepalmitoyltransferase II-deficiëntie, ernstige infantiele vorm","synonyms":["CPT2, ernstige infantiele vorm","CPT2, hepatocardiomusculaire vorm","CPTII, ernstige infantiele vorm","CPTII, hepatocardiomusculaire vorm","Carnitinepalmitoyltransferase II-deficiëntie, hepatocardiomusculaire vorm","Carnitinepalmitoyltransferasedeficiëntie type 2, ernstige infantiele vorm","Carnitinepalmitoyltransferasedeficiëntie type 2, hepatocardiomusculaire vorm"],"definition":"De ernstige infantiele vorm van carnitinepalmitoyltransferase II (CPT II)-deficiëntie, een erfelijke aandoening die mitochondriale oxidatie van langeketenvetzuren (LCFA) verstoort, is de vroeg optredende vorm van de ziekte."},"pt":{"name":"Deficiência da carnitina-palmitoil transferase 2, forma grave do latente"},"pl":{"name":"Niedobór palmitylotransferazy karnityny II, ciężka postać dziecięca","synonyms":["CPT2, ciężka postać dziecięca","CPT2, postać wątrobowo-sercowo-mięśniowa","CPTII, ciężka postać dziecięca","CPTII, postać wątrobowo-sercowo-mięśniowa","Niedobór palmitylotransferazy karnityny II, postać wątrobowo-sercowo-mięśniowa","Niedobór palmitylotransferazy karnityny typu 2, ciężka postać dziecięca","Niedobór palmitylotransferazy karnityny typu 2, postać wątrobowo-sercowo-mięśniowa"]},"cs":{"name":"Deficit karnitinpalmitoyltransferázy II, těžká infantilní forma","synonyms":["CPT2, hepatokardiomuskulární forma","CPTII, hepatokardiomuskulární forma","Deficit karnitin palmitoyl transferázy II, hepatokardiomuskulární forma","Deficit karnitin palmitoyl transferázy 2, hepatokardiomuskulární forma","CPT2, těžká infantilní forma","CPTII, těžká infantilní forma"]},"uk":{"name":"Дефіцит карнітинпальмітоілтрансферази ІІ, тяжка інфантильна форма","synonyms":["Дефіцит карнітинпальмітоїлтрансферази 2 типу, гепатокардіомязова форма","Дефіцит карнітинпальмітоїлтрансферази 2 типу, тяжка дитяча форма","Дефіцит карнітинпальмітоілтрансферази II, гепатокардіомязова форма","СРТ2, гепатокардіомязова форма","CPT2, важка дитяча форма","CPTII, гепатокардіомязова форма","CPTII, важка дитяча форма"],"definition":"The severe infantile 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 early-onset form of the disease."},"zh":{"name":"重症婴儿型肉碱棕榈酰转移酶II缺乏症","synonyms":["肝-心肌型CPTII"],"definition":"肉毒碱棕榈酰转移酶II（CPT II）缺乏症（见该词条）严重婴儿型，是一种影响长链脂肪酸（LCFA）线粒体氧化过程的遗传性疾病，是该病的早期发病形式。"},"tr":{"name":"Karnitin palmitoil transferaz II eksikliği, ağır infantil form","synonyms":["Karnitin palmitoil transferaz II eksikliği, hepatokardiyomüsküler form","Karnitin palmitoil transferaz eksikliği tip 2, ağır infantil form","Karnitin palmitoil transferaz eksikliği tip 2, hepatokardiyomüsküler form","CPT2, ağır infantil formu","CPTII, ağır infantil formu","CPT2, hepatokardiyomüsküler form","CPTII, hepatokardiyomüsküler form"]}},"xrefs":[{"source":"OMIM","code":"600649","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":"1488785910"},{"source":"MONDO","code":"0010914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563462","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833511","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"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":"18550408[PMID]_20301431[PMID]_28054946[PMID]","terms":[{"hpo":"HP:0012380","label":"Reduced carnitine O-palmitoyltransferase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003449","label":"Cold-induced muscle cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008315","label":"Decreased plasma free carnitine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011936","label":"Decreased plasma total carnitine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040320","label":"Red-brown urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006929","label":"Hypoglycemic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null}]}}