{"orpha":156,"name":"Carnitine palmitoyl transferase 1A deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CPT1A deficiency","Carnitine palmitoyl transferase IA deficiency","Hepatic carnitine palmitoyl transferase 1 deficiency","Hepatic carnitine palmitoyl transferase I deficiency","L-CPT1 deficiency","L-CPTI deficiency"],"definition":"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-156/","orphanet_url":"https://www.orpha.net/en/disease/detail/156","names":{"fr":{"name":"Déficit en carnitine palmitoyltransférase 1A","synonyms":["Déficit en CPT-1A","Déficit en L-CPT1","Déficit en L-CPTI","Déficit en carnitine palmitoyltransférase 1 hépatique","Déficit en carnitine palmitoyltransférase I hépatique","Déficit en carnitine palmitoyltransférase IA"],"definition":"Le déficit en carnitine palmitoyltransférase 1A (CPT-1A) est une erreur innée du métabolisme touchant l'oxydation mitochondriale des acides gras à longue chaîne (AGLC) dans le foie et les reins, caractérisée par des accès récidivants d'hypoglycémie hypocétosique induits par le jeûne et par un risque d'insuffisance hépatique."},"de":{"name":"Carnitin-Palmitoyl-Transferase IA-Mangel","synonyms":["CPT IA-Mangel","CPT-1A-Mangel","Carnitin-Palmitoyl-Transferase I-Mangel, hepatischer","L-CPT1-Mangel"],"definition":"Der Carnitin-Palmitoyl-Transferase-1A (CPT-1A)-Mangel ist ein angeborener Stoffwechseldefekt, durch den die mitochondriale Oxidation der langkettigen Fettsäuren (LCFA) in Leber und Niere beeinträchtigt ist. Er ist gekennzeichnet durch rezidivierende Attacken von fasteninduzierter hypoketotischer Hypoglykämie und dem Risiko des Leberversagens."},"es":{"name":"Deficiencia de carnitina palmitoiltransferasa 1A","synonyms":["Deficiencia de CPT-1A","Deficiencia de L-CPT1","Deficiencia de L-CPTI","Deficiencia de carnitina palmitoiltransferasa 1 hepática","Deficiencia de carnitina palmitoiltransferasa I hepática","Deficiencia de carnitina palmitoiltransferasa IA"],"definition":"El déficit de carnitina palmitoiltransferasa 1ª (CPT-1A) es un error congénito del metabolismo que afecta a la oxidación mitocondrial de los ácidos grasos de cadena larga (AGCL) en hígado y riñones, y que se caracteriza por ataques recurrentes de hipoglucemia hipocetósica por ayuno y riesgo de insuficiencia hepática."},"it":{"name":"Deficit di carnitina-palmitoil transferasi 1A","synonyms":["Deficit di CPT-1A","Deficit di L-CPT1","Deficit di L-CPTI","Deficit di carnitina-palmitoil transferasi IA","Deficit epatico di carnitina-palmitoil transferasi 1","Deficit epatico di carnitina-palmitoil transferasi I"]},"nl":{"name":"Carnitinepalmitoyltransferase 1A-deficiëntie","synonyms":["CPT1A-deficiëntie","Carnitinepalmitoyltransferase IA-deficiëntie","Hepatische carnitinepalmitoyltransferase 1-deficiëntie","Hepatische carnitinepalmitoyltransferase I-deficiëntie","L-CPT1-deficiëntie","L-CPTI-deficiëntie"],"definition":"Carnitinepalmitoyltransferase 1A (CPT-1A)-deficiëntie is een aangeboren metabole afwijking die mitochondriale oxidatie van langeketenvetzuren (LCFA) in de lever en nieren beïnvloedt, en die gekenmerkt wordt door terugkerende aanvallen van geïnduceerde hypoketotische hypoglycemie tijdens periodes van vasten en het risico op leverfalen."},"pt":{"name":"Deficiência de carnitina palmitoiltransferase 1A","definition":"O défice de carnitina palmitoiltransferase 1A (CPT-1A) é uma doença metabólica congénita que afecta a oxidação mitocondrial dos ácidos gordos de cadeia longa (AGCL) no fígado e rins, e é caracterizada por ataques recorrentes de hipoglicemia hipocetótica induzida pelo jejum e risco de insuficiência hepática."},"pl":{"name":"Niedobór palmitylotransferazy 1A karnityny","synonyms":["Niedobór CPT1A","Niedobór L-CPT1","Niedobór L-CPTI","Niedobór palmitylotransferazy 1 karnityny wątrobowej","Niedobór palmitylotransferazy I karnityny wątrobowej","Niedobór palmitylotransferazy IA karnityny"]},"cs":{"name":"Deficit karnitinpalmitoyltransferázy 1 A","synonyms":["Deficit CPT1A","Deficit karnitinpalmitoyltransferázy I A","Deficit jaterní karnitinpalmitoyltransferázy 1","Deficit jaterní karnitinpalmitoyltransferázy I","Deficit L-CPT1","Deficit L-CPTI"]},"uk":{"name":"Дефіцит карнітин пальмітоїлтрансферази 1А","synonyms":["Дефіцит карнітинпальмітозилтрансферази IA","Дефіцит CPT1A","Дефіцит печінкової карнітинпальмітоілтрансферази 1","Дефіцит печінкової карнітинпальмітоілтрансферази I","Дефіцит L-CPT1","Дефіцит L-CPTI"],"definition":"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure."},"zh":{"name":"肉毒碱棕榈酰转移酶IA缺乏症","synonyms":["肝肉毒碱棕榈酰转移酶I缺乏"]},"tr":{"name":"Karnitin palmitoil transferaz 1A eksikliği","synonyms":["CPT1A eksikliği","L-CPT1 eksikliği","L-CPTI eksikliği","Karnitin palmitoil transferaz IA eksikliği","Hepatik karnitin palmitoil transferaz 1 eksikliği","Hepatik karnitin palmitoil transferaz I eksikliği"]}},"xrefs":[{"source":"OMIM","code":"255120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C52.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"500237301"},{"source":"MONDO","code":"0009705","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535588","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1829703","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309130,"name":"Disorder of carnitine cycle and carnitine transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"CPT1A","name":"carnitine palmitoyltransferase 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301700[PMID]","hgnc":"2328","ensembl":"ENSG00000110090","omim":"600528","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"20301700[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301700[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008279","label":"Transient hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null}]}}