{"orpha":168598,"name":"Methionine adenosyltransferase I/III deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MAT I/III deficiency","Mudd's disease"],"definition":"A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168598/","orphanet_url":"https://www.orpha.net/en/disease/detail/168598","names":{"fr":{"name":"Déficit en méthionine adénosyltransférase I/III","synonyms":["Déficit en MAT I/III","Maladie de Mudd"],"definition":"Erreur innée du métabolisme rare caractérisée par la persistance des taux sériques élevés de méthionine. Chez les patients dont les taux moyens sont inférieurs à 800 &#956;M l'examen clinique est généralement normal, tandis que ceux dont les taux moyens sont plus élevés présentent des signes d'anomalies du système nerveux central, plus particulièrement une hypo- ou une démyélinisation visible à l'IRM cérébrale, ainsi qu'un retard de développement et une déficience intellectuelle. Une mauvaise haleine ou une forte odeur d'urine et de sueur peuvent être observées chez certains patients."},"de":{"name":"Methionin-Adenosyltransferase I/III-Mangel","synonyms":["MAT I/III-Defizienz","MAT I/III-Mangel","MAT-Mangel","Methionin-Adenosyltransferase-Mangel"],"definition":"Ein seltener angeborener Stoffwechselfehler, der durch anhaltend erhöhte Methioninwerte im Serum gekennzeichnet ist. Die Hälfte der Patienten mit MAT I/III-Mangel, insbesondere diejenigen mit einer Hypermethioninämie unter 800 &#956;M sind klinisch asymptomatisch. Bei Personen mit höheren Werten können jedoch Anzeichen für Anomalien des Zentralnervensystems auftreten, insbesondere Hypo- oder Demyelinisierung im MRT des Gehirns, sowie Entwicklungsverzögerungen und Intelligenzminderungen. Bei einigen Patienten kann Mundgeruch oder ein starker Geruch von Urin und Schweiß auftreten."},"es":{"name":"Deficiencia de metionina adenosiltransferasa I/IIII","synonyms":["Deficiencia de MAT I/III","Enfermedad de Mudd"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por niveles de metionina sérica persistentemente elevados. La mitad de los pacientes con deficiencia de MAT I/III descritos, en particular aquellos con hipermetioninemia por debajo de 800 µM, no presentan alteraciones del SNC y son clínicamente asintomáticos. Sin embargo, los pacientes con niveles más elevados pueden mostrar evidencia de anomalías del sistema nervioso central, en particular hipo- o desmielinización en la resonancia magnética cerebral, así como retraso del desarrollo y discapacidad intelectual. En algunos pacientes se ha descrito halitosis o un fuerte olor a orina y sudor."},"it":{"name":"Deficit di metionina adenosiltransferasi I/III","synonyms":["Deficit di MAT I/III"],"definition":"L'ipermetioninemia da deficit di metionina adenosiltransferasi è una patologia metabolica molto rara, che provoca un'ipermetioninemia epatica isolata, di solito benigna, da inattivazione parziale dell'attività enzimatica. Raramente i pazienti possono presentare un odore atipico oppure disturbi neurologici, come la demielinizzazione cerebrale."},"nl":{"name":"Deficiëntie van methionine-adenosyltransferase I/III","synonyms":["MAT I/III-deficiëntie","Ziekte van Mudd"],"definition":"Een zeldzame aangeboren stofwisselingsziekte, gekenmerkt door aanhoudend verhoogde gehaltes van methionine in serum. De helft van de patiënten met MAT I/III-deficiëntie die werden gerapporteerd, vooral diegenen met hypermethioninemie onder 800 µM, heeft geen afwijkingen van centraal zenuwstelsel (CZS) en is klinisch asymptomatisch. Individuen met hogere waarden kunnen echter aanwijzingen vertonen van afwijkingen van CZS, voornamelijk hypo- of demyelinisatie op MRI van hersenen, alsook ontwikkelingsachterstand en intellectuele achterstand. Slechte adem of een sterke geur van urine en zweet kan opgemerkt worden bij sommige patiënten."},"pt":{"name":"Deficiência de metionina adenosiltransferase I/III","synonyms":["Deficiência MAT I/III","Doença Mudd"],"definition":"Erro inato raro do metabolismo caracterizado por níveis séricos de metionina persistentemente elevados. Metade dos doentes relatados com deficiência de MAT I/III, principalmente aqueles com hipermetioninemia abaixo de 800 µM, não apresentam anomalias no SNC e são clinicamente assintomáticos. No entanto, os indivíduos com níveis mais elevados podem apresentar evidências de anomalias no sistema nervoso central, principalmente hipo ou desmielinização na ressonância magnética do cérebro, bem como atraso no desenvolvimento e perturbação do desenvolvimento intelectual. Mau hálito ou forte cheiro a urina e suor podem ser observados em alguns doentes."},"pl":{"name":"Demielinizacja mózgu z powodu niedoboru adenozylotransferazy metioniny","synonyms":["Niedobór adenozylotransferazy metioniny","Niedobór MAT","Niedobór MAT I/III","Niedobór adenozylotransferazy metioninowej I/III"],"definition":"Rzadka wrodzona wada metabolizmu charakteryzująca się stale podwyższonym poziomem metioniny w surowicy. Połowa pacjentów z niedoborem MAT I/III, zwłaszcza z hipermetioninemią poniżej 800 µM, nie ma nieprawidłowości ośrodkowego układu nerwowego oraz objawów klinicznych. U osób z wyższymi poziomami metioniny mogą wystąpić nieprawidłowości ośrodkowego układu nerwowego, w szczególności hipo- lub demielinizacja stwierdzana w badaniu MRI mózgu, a także opóźnienie rozwoju i niepełnosprawność intelektualna. Niektórzy pacjenci mogą mieć nieświeży oddech lub silny zapach moczu i potu."},"cs":{"name":"Demyelinizace mozku způsobená deficitem methionin adenosyltransferázy","synonyms":["Deficit MAT I/III","Deficit MAT","Deficit methionin adenosyltransferázy"]},"uk":{"name":"Дефіцит метіонінаденозилтрансферази I/III","synonyms":["Дефіцит МАТ I/III","Хвороба Мадда"],"definition":"A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients."},"zh":{"name":"蛋氨酸腺苷转移酶缺乏所致脑脱髓鞘","synonyms":["蛋氨酸腺苷转移酶缺乏症"],"definition":"甲硫氨酸腺苷转移酶缺乏所致脑脱髓鞘疾病是一种非常罕见的代谢性疾病，造成肝脏孤立性高甲硫氨酸血症，由于甲硫氨酸腺苷转移酶没有完全失活，所以该病一般是良性的。很少病例发现有口臭或神经系统疾病，如脑脱髓鞘疾病。"},"tr":{"name":"Metiyonin adenosiltransferaz eksikliğine bağlı beyin demiyelinizasyonu","synonyms":["MAT eksikliği","MAT I/III eksikliği","Metiyonin adenosiltransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"250850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"530628531"},{"source":"MONDO","code":"0009607","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MAT1A","name":"methionine adenosyltransferase 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22951388[PMID]","hgnc":"6903","ensembl":"ENSG00000151224","omim":"610550","loci":["10q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8770875[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8770875[PMID]"}],"phenotypes":null}