{"orpha":943,"name":"Malonic aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Deficiency of malonyl-CoA decarboxylase","MLYCD deficiency","Malonic acidemia","Malonyl-CoA decarboxylase deficiency"],"definition":"Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-943/","orphanet_url":"https://www.orpha.net/en/disease/detail/943","names":{"fr":{"name":"Acidurie malonique","synonyms":["Déficit en MCD","Déficit en malonyl-CoA décarboxylase"],"definition":"L'acidurie malonique est une maladie métabolique due à un déficit en malonyl-CoA décarboxylase (MCD)."},"de":{"name":"Malonazidurie","synonyms":["MLYCD-Defizienz","Malonyl-CoA-Decarboxylase- Mangel"],"definition":"Die Malonazidurie ist eine Stoffwechselkrankheit mit Aktivitätsmangel der Malonyl-CoA-Dekarboxylase (MCD)."},"es":{"name":"Aciduria malónica","synonyms":["Acidemia malónica","Deficiencia de MLYCD","Deficiencia de malonil-CoA descarboxilasa"],"definition":"Es un trastorno metabólico causado por la deficiencia de malonil-CoA descarboxilasa (MCD)."},"it":{"name":"Aciduria malonica","synonyms":["Acidemia malonica","Deficit di MLYCD","Deficit di malonil-CoA decarbossilasi"]},"nl":{"name":"Malonacidurie","synonyms":["Deficiëntie van malonyl-CoA-decarboxylase","Malonacidemie","Malonzuuracidurie"],"definition":"Malonacidurie is een metabole aandoening die wordt veroorzaakt door deficiëntie van malonyl-CoA-decarboxylase (MCD)."},"pt":{"name":"Acidúria malónica","synonyms":["Acidemia malónica","Deficiência MLYCD","Deficiência de malonil-CoA descarboxilase"]},"pl":{"name":"Acyduria malonowa","synonyms":["Kwasica malonowa"]},"cs":{"name":"Malonová acidurie","synonyms":["Deficit malonyl-CoA dekarboxylázy"]},"uk":{"name":"Малонова ацидурія","synonyms":["Дефіцит малоніл-КоА декарбоксилази","Малонова ацидемія","Дефіцит малоніл-КоА-декарбоксилази","Дефіцит MLYCD"],"definition":"Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)."},"zh":{"name":"丙二酸尿症","synonyms":["丙二酰-CoA脱羧酶缺乏"]},"tr":{"name":"Malonik asidüri","synonyms":["Malonyl-CoA dekarboksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"248360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1373430210"},{"source":"MONDO","code":"0009556","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342793","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3371","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309133,"name":"Metabolic disease due to other fatty acid oxidation disorder","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MLYCD","name":"malonyl-CoA decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24613099[PMID]","hgnc":"7150","ensembl":"ENSG00000103150","omim":"606761","loci":["16q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"23177061[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-05-14","source":"39069445[PMID]_39069445[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034657","label":"Elevated urine malonic acid level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012120","label":"Methylmalonic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000355","label":"Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}