{"orpha":148,"name":"Multiple carboxylase deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["MCD"],"definition":"A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-148/","orphanet_url":"https://www.orpha.net/en/disease/detail/148","names":{"fr":{"name":"Déficit multiple en carboxylases","synonyms":["MCD"],"definition":"Groupe d'erreurs innées du métabolisme de la biotine caractérisées par une diminution de l'activité des enzymes dépendantes de la biotine, entraînant de nombreux symptômes, notamment des difficultés à s'alimenter, des difficultés respiratoires, une léthargie, des convulsions, des éruptions cutanées, une alopécie et un retard de développement. Le déficit en biotinidase et le déficit en holocarboxylase synthétase font partie de ce groupe."},"de":{"name":"Multipler Carboxylase-Mangel","definition":"Eine Gruppe von angeborenen Störungen des Biotinstoffwechsels, die durch eine verminderte Aktivität von biotinabhängigen Enzymen gekennzeichnet sind und zu einem breiten Spektrum von Symptomen führen, darunter Fütterungsschwierigkeiten, Atembeschwerden, Lethargie, Krampfanfälle, Hautausschlag, Alopezie und Entwicklungsverzögerung. Zu dieser Gruppe gehören Biotinidase-Mangel und Biotin-Holocarboxylase-Synthetase-Mangel."},"es":{"name":"Deficiencia múltiple de carboxilasas","definition":"Es un grupo de errores innatos del metabolismo de la biotina caracterizado por la reducción de la actividad de las enzimas dependientes de la biotina, que resulta en un amplio espectro de síntomas, incluyendo dificultad para alimentarse, dificultad respiratoria, letargia, crisis, erupción cutánea, alopecia y retraso psicomotor. Este grupo incluye la deficiencia de biotinidasa y la deficiencia de biotina holocarboxilasa sintetasa."},"it":{"name":"Deficit multiplo di carbossilasi","synonyms":["MCD"],"definition":"Deficit multiplo di carbossilasi (MCD) è il termine usato per descrivere i difetti congeniti del metabolismo della biotina, caratterizzati dalla riduzione dell'attività degli enzimi dipendenti dalla biotina, responsabile di una ampia gamma di sintomi, che comprende le difficoltà alimentari, i disturbi respiratori, la letargia, le convulsioni, il rash cutaneo, l'alopecia e il ritardo dello sviluppo."},"nl":{"name":"Meervoudige carboxylasedeficiëntie","synonyms":["MCD","Multipele carboxylasedeficiëntie"],"definition":"Een groep van aangeboren defecten van biotinemetabolisme, gekenmerkt door verminderde activiteit van biotine-afhankelijke enzymen, wat leidt tot een breed spectrum van symptomen, waaronder voedingsproblemen, ademhalingsmoeilijkheden, lethargie, insulten, huiduitslag, alopecie, en ontwikkelingsachterstand. Deze groep omvat deficiëntie van biotinidase en deficiëntie van biotine-holocarboxylase-synthetase."},"pt":{"name":"Deficiência múltipla de carboxilases","definition":"A deficiência de múltiplas carboxilases (MCD) é um termo usado para descrever doenças do metabolismo da biotina caracterizadas por atividades reduzidas de enzimas dependentes de biotina, resultando num amplo espectro de sintomas, incluindo dificuldades de alimentação, dificuldades respiratórias, letargia, convulsões, erupção cutânea, alopecia e atraso do desenvolvimento."},"pl":{"name":"Mnogi Niedobór karboksylazy","synonyms":["MCD"]},"cs":{"name":"Mnohočetný karboxylázový deficit","synonyms":["MCD"]},"uk":{"name":"Дефіцит множинної карбоксилази","synonyms":["MCD"],"definition":"A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency."},"zh":{"name":"多种羧化酶缺乏症","synonyms":["MCD"]},"tr":{"name":"Çoklu karboksilaz eksikliği","synonyms":["MCD"]}},"xrefs":[{"source":"MONDO","code":"0015454","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15454","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009100","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026755","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028176","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]},{"orpha":79387,"name":"Metabolic disease with skin involvement","classifications":[156]},{"orpha":79217,"name":"Other metabolic disease with skin involvement","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}