{"orpha":411712,"name":"Maternal riboflavin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411712/","orphanet_url":"https://www.orpha.net/en/disease/detail/411712","names":{"fr":{"name":"Déficit maternel en riboflavine","definition":"Anomalie rare de transport et d'absorption des métabolites d'origine génétique caractérisée par une diminution persistante des taux sériques de riboflavine due à un défaut génétique primaire chez la mère entraînant des signes cliniques et des caractéristiques biochimiques compatibles avec un déficit secondaire transitoire multiple en acyl-CoA déshydrogénases (DMAD), engageant le pronostic vital du nouveau-né. La mère présente généralement une hyperémèse gravidique en l'absence d'autres caractéristiques de la carence en riboflavine, telles que des lésions cutanées, un ictère, un prurit, des muqueuses douloureuses, des troubles de la vision."},"de":{"name":"Riboflavin-Mangel, maternaler"},"es":{"name":"Deficiencia de riboflavina materna","definition":"La deficiencia de riboflavina materna es un trastorno genético poco frecuente de absorción o transporte de metabolitos. Está caracterizada por una disminución persistente de los niveles séricos de riboflavina debido a un defecto genético primario de origen materno y que conduce a hallazgos clínicos y bioquímicos compatibles con una deficiencia múltiple de acil CoA-deshidrogenasa (MADD) en el recién nacido, secundaria, transitoria y potencialmente mortal. La madre suele presentar hiperémesis gravídica en ausencia de otras características de deficiencia de riboflavina, tales como lesiones cutáneas, ictericia, prurito, afectación de las membranas mucosas y trastornos visuales."},"it":{"name":"Deficit materno di riboflavina","definition":"Il deficit materno di riboflavina è una malattia genetica rara dell'assorbimento o del trasporto dei metaboliti, caratterizzata da una riduzione costante dei livelli di riboflavina nel siero, causata da un difetto genetico primitivo nella madre, che comporta segni clinici e caratteristiche biochimiche coerenti con un deficit multiplo secondario e transitorio di acil-CoA deidrogenasi (MADD), potenzialmente letale nel neonato. Di solito la madre presenta iperemesi gravidica, in assenza degli altri segni clinici caratteristici del deficit di riboflavina, comprese le lesioni cutanee, l'ittero, il prurito, il dolore delle mucose e i disturbi della vista."},"nl":{"name":"Maternale riboflavinedeficiëntie","definition":"Maternale riboflavinedeficiëntie is een zeldzame, genetische stoornis van de absorptie of het transport van metabolieten, en wordt gekarakteriseerd door aanhoudend verlaagde gehaltes van riboflavine in het serum als gevolg van een primair genetisch defect bij de moeder, wat leidt tot klinische en biochemische bevindingen die consistent zijn met een secundaire, levensbedreigende, transiënte multipele acyl-CoA-dehydrogenasedeficiëntie (MADD) bij neonaten. De moeder vertoont meestal hyperemesis gravidarum (ernstig zwangerschapsbraken) in afwezigheid van andere kenmerken van riboflavinedeficiëntie, zoals huidletsels, geelzucht, pruritus, pijnlijke slijmvliezen, en visuele stoornissen."},"pt":{"name":"Défice materno de riboflavina"},"pl":{"name":"Matczyny Niedobór ryboflawiny"},"cs":{"name":"Maternální deficit riboflavinu"},"uk":{"name":"Дефіцит рибофлавіну у матері","definition":"Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances."},"zh":{"name":"母体核黄素缺乏","definition":"孕妇核黄素缺乏症是一种罕见的遗传性代谢物吸收或转运障碍疾病，其特征在于母亲的原发遗传缺陷而导致血清中核黄素水平持续降低。临床和生化检查结果与致血清中核黄素水平持续降低有关。新生儿可出现继发性致命性的短暂的多种乙酰化-CoA脱氢酶缺乏症（MADD）。母亲通常会出现妊娠呕吐，而缺乏核黄素缺乏症相关的其他特征，如皮肤病变，黄疸，瘙痒，粘膜酸痛，视觉障碍。"},"tr":{"name":"Maternal riboflavin eksikliği"}},"xrefs":[{"source":"OMIM","code":"615026","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P00.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B5B","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014013","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750953","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC52A1","name":"solute carrier family 52 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17689999[PMID]_21089064[PMID]","hgnc":"30225","ensembl":"ENSG00000132517","omim":"607883","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21089064[PMID]_29122468[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21089064[PMID]_29122468[PMID]"}],"phenotypes":null}