{"orpha":329942,"name":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Transient neonatal MAD deficiency","Transient neonatal MADD","Transient neonatal glutaric acidemia type 2","Transient neonatal glutaric aciduria type 2"],"definition":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329942/","orphanet_url":"https://www.orpha.net/en/disease/detail/329942","names":{"fr":{"name":"Déficit néonatal transitoire multiple en acyl-CoA déshydrogénases","synonyms":["Acidurie glutarique type 2 néonatale transitoire","Acidémie glutarique type 2 néonatale transitoire","Déficit néonatal transitoire en MAD","MADD néonatal transitoire"],"definition":"Le déficit néonatal transitoire multiple en acyl-CoA déshydrogénases décrit un syndrome très rare dans lequel un déficit en riboflavine maternelle induit chez un nourrisson des signes similaires à ceux observés dans le déficit multiple en acyl-CoA déshydrogénases (à savoir des troubles de la succion, une acidose métabolique et une hypoglycémie), mais se résolvant complètement par la prise de riboflavine par voie orale. Une haploinsuffisance du transporteur de la riboflavine humaine (hRFT1) a été décrite chez la mère du seul patient décrit."},"de":{"name":"Acyl-CoA-Dehydrogenase-Mangel, multipler neonataler transienter","synonyms":["MADD, transient neonatal","Transiente neonatale Glutarazidurie Typ 2","Transiente neonatale Glutarazidämie Typ 2","Transienter neonataler MAD-Mangel"],"definition":"Der transiente Multiple Acyl-CoA-Dehydrogenase-Mangel der Neonatalperiode ist eine sehr seltene Störung, bei der ein Riboflavindefizit der Mutter beim Kind Symptome des Multiplen Acyl-CoA-Dehydrogenase (MAD)-Mangels (s. dort) auslöst: Schwaches Saugen, metabolische Azidose und Hypoglykämie. Nach oraler Gabe von Riboflavin verschwinden diese Symptome vollständig. Bei der Mutter eines Kindes wurde Haploinsuffizienz des Riboflavin-Transporters (RFT1) beschrieben."},"es":{"name":"Deficiencia múltiple de acil-CoA deshidrogenasa neonatal transitoria","synonyms":["Acidemia glutárica neonatal transitoria tipo 2","Aciduria glutárica neonatal transitoria tipo 2","Deficiencia neonatal transitoria de MAD","MADD neonatal transitorio"],"definition":"La deficiencia neonatal transitoria múltiple de acil CoA-deshidrogenasa es una enfermedad rara en la que un déficit de riboflavina materna provoca en el lactante manifestaciones similares a las observadas en la deficiencia múltiple de acil CoA-deshidrogenasa (MADD) (ver este término), tales como dificultad en la succión, acidosis metabólica e hipoglucemia, pero que se resuelve completamente mediante la administración oral de riboflavina. En el único caso descrito, la madre del afectado tenía haploinsuficiencia del transportador humano de la riboflavina (hRFT1)."},"it":{"name":"Deficit multiplo neonatale transitorio di acil-CoA deidrogenasi","synonyms":["Acidemia glutarica neonatale transitoria, tipo 2","Aciduria glutarica neonatale transitoria, tipo 2","Deficit neonatale transitorio di MAD","MADD neonatale transitorio"],"definition":"Il deficit multiplo neonatale transitorio di acil-CoA deidrogenasi è una malattia molto rara, nella quale il deficit materno di riboflavina causa nel neonato l'insorgenza di segni simili a quelli descritti nel deficit multiplo di acil-CoA deidrogenasi (MAD; si veda questo termine), come difficoltà di suzione, acidosi metabolica e ipoglicemia. La remissione è completa dopo l'assunzione orale di riboflavina. In un paziente, è stata descritta aploinsufficienza del trasportatore della riboflavina umana (hRFT1) nella madre."},"nl":{"name":"Voorbijgaande neonatale meervoudige acyl-CoA-dehydrogenasedeficiëntie","synonyms":["Voorbijgaande neonatale MAD-deficiëntie","Voorbijgaande neonatale MADD","Voorbijgaande neonatale glutaaracidemie type 2","Voorbijgaande neonatale glutaaracidurie type 2"],"definition":"Voorbijgaande, neonatale, multipele acyl-CoA-dehydrogenasedeficiëntie beschrijft een zeer zeldzame aandoening waarbij een maternaal riboflavinetekort ervoor zorgt dat een zuigeling zich presenteert met manifestaties gelijkaardig aan die van multipele acyl-CoA-dehydrogenase (MAD)-deficiëntie (zie deze term), zoals slecht zuigen, metabole acidose en hypoglycemie, maar die met orale riboflavine volledig kunnen verholpen worden. Haploinsufficiëntie van de menselijke riboflavinetransporter (hRFT1) werd beschreven voor de moeder van de ene gerapporteerde patiënt."},"pt":{"name":"Défice transitório neonatal múltipla da acil-CoA desidrogenase"},"pl":{"name":"Przejściowy noworodkowy złożony Niedobór dehydrogenazy acylo-CoA","synonyms":["Przejściowa noworodkowa acyduria glutarowa typu 2","Przejściowa noworodkowa kwasica glutarowa typu 2","Przejściowy noworodkowy MADD","Przejściowy noworodkowy Niedobór MAD"]},"cs":{"name":"Deficit dehydrogenace mnohočetných acyl-CoA, tranzientní novorozenecký typ","synonyms":["Tranzientní neonatální MAD deficit","Tranzientní neonatální MADD","Tranzientní neonatální glutarová acidemie, typ 2","Tranzientní neonatální glutarová acidurie, typ 2"]},"uk":{"name":"Транзиторний неонатальний множинний дефіцит ацил-КоА-дегідрогенази","synonyms":["Транзиторна неонатальна глутарова ацидемія 2 типу","Транзиторна неонатальна глутарова ацидурія 2 типу","Транзиторний неонатальний дефіцит MAD","Транзиторне неонатальне MADD у новонароджених"],"definition":"Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother."},"zh":{"name":"新生儿暂时性多酰辅酶A脱氢酶缺乏症","synonyms":["新生儿暂时性戊二酸尿症2型"],"definition":"新生儿暂时性多酰基辅酶A脱氢酶缺乏症描述了一种非常罕见的情况，母亲核黄素缺乏导致婴儿出现与多酰基辅酶A脱氢酶（MAD）缺乏症（见该术语）相似的症状，如吮吸不良、代谢性酸中毒和低血糖，但口服核黄素完全可以解决这个问题。在一例患者中， 发现母亲人类核黄素转运体（hRFT1）的单倍体不足。"},"tr":{"name":"Geçici yenidoğan çoklu açil-CoA dehidrojenaz eksikliği","synonyms":["Geçici yenidoğan MADD","Geçici yenidoğan MAD eksikliği","Geçici yenidoğan glutarik asidemi tip 2","Geçici yenidoğan glutarik asidüri tip 2"]}},"xrefs":[{"source":"ICD-10","code":"P72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509950","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309120,"name":"Acyl-CoA dehydrogenase deficiency","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"17689999[PMID]_21089064[PMID]_21089064[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}