{"orpha":6,"name":"3-methylcrotonyl-CoA carboxylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-methylcrotonylglycinuria","MCC deficiency","MCCD"],"definition":"A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-6/","orphanet_url":"https://www.orpha.net/en/disease/detail/6","names":{"fr":{"name":"Déficit en 3-méthylcrotonyl-CoA carboxylase","synonyms":["3-méthylcrotonyl glycinurie","Déficit en MCC","MCCD"],"definition":"Trouble héréditaire rare du métabolisme de la leucine caractérisé par un tableau clinique très variable, allant de crises métaboliques pendant la petite enfance à des formes asymptomatiques chez les adultes."},"de":{"name":"3-Methylcrotonyl-CoA-Carboxylase-Mangel","synonyms":["3-Methylcrotonylglycinurie","MCC-Mangel","MCCD"],"definition":"Eine seltene vererbte Störung des Leucinstoffwechsels, die durch ein sehr variables klinisches Bild gekennzeichnet ist, das von einer Stoffwechselkrise im Säuglingsalter bis zu asymptomatischen Erwachsenen reicht."},"es":{"name":"Deficiencia de 3-metilcrotonil-CoA carboxilasa","synonyms":["3-metilcrotonil glicinuria","Deficiencia de MCC","MCCD"],"definition":"Es un trastorno hereditario poco frecuente del metabolismo de la leucina, caracterizado por un cuadro clínico muy variable que va desde crisis metabólicas en la lactancia hasta adultos asintomáticos."},"it":{"name":"Deficit di 3-metilcrotonil-CoA carbossilasi","synonyms":["3-metilcrotonilglicinuria","Deficit di MCC","MCCD"],"definition":"Il deficit di 3-metilcrotonil-CoA carbossilasi (3-MCCD) è una malattia ereditaria rara del metabolismo della leucina, caratterizzata da un quadro clinico molto variabile, dalle crisi metaboliche neonatali, agli adulti asintomatici."},"nl":{"name":"Deficiëntie van 3-methylcrotonyl-CoA-carboxylase","synonyms":["MCC-deficiëntie","MCCD","3-MCC-deficiëntie","3-methylcrotonylglycinurie"],"definition":"Een zeldzame hereditaire stoornis van metabolisme van leucine, gekarakteriseerd door een zeer variabel klinisch beeld gaande van metabole crisis in de zuigelingentijd tot asymptomatische volwassenen."},"pt":{"name":"Deficiência de 3-metilcrotonil-CoA carboxilase","synonyms":["3-metilcrotonilglicinúria","Deficiência de MCC","MCCD"],"definition":"Doença hereditária rara do metabolismo da leucina, caracterizada por um quadro clínico altamente variável, que vai desde crises metabólicas na infância até adultos assintomáticos."},"pl":{"name":"Izolowany deficyt karboksylazy 3-metylokrotonylo-CoA","synonyms":["3-metylokrotonyloglicynuria","MCCD","Niedobór MCC"],"definition":"Niedobór karboksylazy 3-metylokrotonyl-CoA (3-MCCD) jest dziedzicznym zaburzeniem metabolizmu leucyny, charakteryzującym się bardzo zmiennym obrazem klinicznym, od przełomu metabolicznego w niemowlęctwie do braku objawów w wieku dorosłym."},"cs":{"name":"Deficit 3-methylcrotonyl-CoA karboxylázy","synonyms":["3-methylcrotonylglycinurie","MCC deficit","MCCD"]},"uk":{"name":"Дефіцит 3-метилкротоніл-КоА карбоксилази","synonyms":["3-метилкротонілгліцинурія","Дефіцит MCC","MCCD"],"definition":"A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults."},"zh":{"name":"3-甲基巴豆酰辅酶a羧化酶缺乏症","synonyms":["甲基巴豆酰甘氨酸尿症"]},"tr":{"name":"3-metilkrotonil-CoA karboksilaz eksikliği","synonyms":["MCCD","MM eksikliği","3-metilkrotonyglisinüri"]}},"xrefs":[{"source":"OMIM","code":"210200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"210210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"769681951"},{"source":"MONDO","code":"0018950","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535308","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551505","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10954","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MCCC1","name":"methylcrotonyl-CoA carboxylase subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22642865[PMID]_22264772[PMID]","hgnc":"6936","ensembl":"ENSG00000078070","omim":"609010","loci":["3q27.1"]},{"symbol":"MCCC2","name":"methylcrotonyl-CoA carboxylase subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22642865[PMID]_22264772[PMID]","hgnc":"6937","ensembl":"ENSG00000131844","omim":"609014","loci":["5q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.65,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"United States","status":"Validated","source":"12872837[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Germany","status":"Validated","source":"11170888[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.36,"area":"Taiwan, Province of China","status":"Validated","source":"20567911[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004357","label":"Abnormality of leucine metabolism","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:0001992","label":"Organic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null}]}}