{"orpha":391457,"name":"HSD10 disease, neonatal type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type","HSD10 deficiency, neonatal type","MHBD deficiency, neonatal type","2-methyl-3-hydroxybutyric aciduria, neonatal type"],"definition":"HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391457/","orphanet_url":"https://www.orpha.net/en/disease/detail/391457","names":{"fr":{"name":"Maladie HSD10 type néonatal","synonyms":["Acidurie 2-méthyl-3-hydroxybutyrique type néonatal","Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase type néonatal","Déficit en HSD10 type néonatal","Déficit en MHBD type néonatal"],"definition":"Forme la plus sévère de la maladie HSD10, une maladie neurométabolique rare. Elle se caractérise par une acidose métabolique/lactique sévère pendant la période néonatale, un faible développement psychomoteur, des crises d'épilepsie et une cardiomyopathie hypertrophique progressive sévère. Une atteinte hépatique et une coagulopathie sont rares. La maladie est létale dans les premiers mois de la vie."},"de":{"name":"HSD10-Krankheit, neonataler Typ","synonyms":["2-Methyl-3-Hydroxybutyrazidurie, neonataler Typ","2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel, neonataler Typ","HSD10-Mangel, neonataler Typ","MHBD-Mangel, neonataler Typ"]},"es":{"name":"Enfermedad de HSD10 tipo neonatal","synonyms":["Aciduria 2-metil-3-hidroxibutírica tipo neonatal","Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa tipo neonatal","Deficiencia de HSD10 tipo neonatal","Deficiencia de MHBD tipo neonatal"],"definition":"La enfermedad de HSD10, tipo neonatal, es la forma más grave de la enfermedad de HSD10, un trastorno neurometabólico poco frecuente caracterizado por acidosis metabólica / láctica grave en el período neonatal, escaso desarrollo psicomotor, convulsiones y miocardiopatía hipertrófica progresiva grave. La afectación hepática y las coagulopatías son infrecuentes. La enfermedad es fatal en los primeros meses de vida."},"it":{"name":"Malattia HSD10, forma neonatale","synonyms":["Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi, forma neonatale","Deficit di HSD10, forma neonatale","Deficit di MHBD, forma neonatale"],"definition":"La malattia HSD10 di tipo neonatale è la forma più grave di questa malattia neurometabolica rara. È caratterizzata da acidosi metabolica/lattica grave ad esordio neonatale, scarso sviluppo psicomotorio, crisi epilettiche e cardiomiopatia ipertrofica progressiva grave. L'interessamento epatico e le coagulopatie sono rari. La malattia è letale nei primi mesi di vita."},"nl":{"name":"HSD10-ziekte, neonataal type","synonyms":["2-methyl-3-hydroxybutaanzuuracidurie, neonataal type","2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie, neonataal type","HSD10-deficiëntie, neonataal type","MHBD-deficiëntie, neonataal type"],"definition":"HSD10-ziekte, neonataal type is de ergste vorm van HSD10-ziekte, een zeldzame neurometabole aandoening. De ziekte wordt gekarakteriseerd door ernstige metabole acidose en lactaatacidose in de neonatale periode, psychomotorische ontwikkelingsachterstand, insulten en ernstige progressieve hypertrofische cardiomyopathie. Betrokkenheid van de lever en coagulopathie zijn zeldzaam. De ziekte is binnen de eerste levensmaanden fataal."},"pt":{"name":"Doença HSD10, tipo neonatal"},"pl":{"name":"Choroba HSD10, typ noworodkowy","synonyms":["Acyduria 2-metylo-3-hydroksymasłowa, typ noworodkowy","Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA, typ noworodkowy","Niedobór HSD10, typ noworodkowy","Niedobór MHBD, typ noworodkowy"],"definition":"*Choroba HSD10, typ noworodkowy, jest najcięższą postacią choroby HSD10, rzadkiej choroby nerwowo-metabolicznej. Charakteryzuje się ciężką kwasicą metaboliczną/mleczanową w okresie noworodkowym, słabym rozwojem psychoruchowym, drgawkami i ciężką postępującą kardiomiopatią przerostową. Zajęcie wątroby i zaburzenia krzepnięcia krwi występują rzadko. Choroba prowadzi do zgonu w pierwszych miesiącach życia."},"cs":{"name":"Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, neonatální typ","synonyms":["2-methyl-3-hydroxymáselná acidurie, neonatální typ","HSD10 deficit, neonatální typ","MHBD deficit, neonatální typ"]},"uk":{"name":"Хвороба HSD10, неонатальний тип","synonyms":["2-метил-3-гідроксимасляна ацидурія, неонатальний тип","Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази, неонатальний тип","Дефіцит HSD10, неонатальний тип","Дефіцит MHBD, неонатальний тип"],"definition":"HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life."},"zh":{"name":"新生儿型HSD10病","synonyms":["新生儿型2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症"],"definition":"17β-羟类固醇脱氢酶10型新生儿型是HSD10病中最严重的一种，是一种罕见的神经代谢紊乱。以新生儿期严重代谢性/乳酸酸中毒、精神运动发育迟缓、癫痫发作和严重进行性肥厚型心肌病为特征。肝脏受累和凝血障碍是罕见的。本病可在出生后的头几个月内致命。"},"tr":{"name":"HSD10 hastalığı, yenidoğan tipi","synonyms":["MHBD eksikliği, yenidoğan tipi","HSD10 eksikliği, yenidoğan tipi","2-metil-3-hidroksibütirik asidüri, yenidoğan tipi","2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği, yenidoğan tipi"]}},"xrefs":[{"source":"OMIM","code":"300438","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018323","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680026","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":391417,"name":"HSD10 disease","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"HSD17B10","name":"hydroxysteroid 17-beta dehydrogenase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22127393[PMID]","hgnc":"4800","ensembl":"ENSG00000072506","omim":"300256","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22127393[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":"2020-10-20","source":"22127393[PMID]","terms":[{"hpo":"HP:0500170","label":"Abnormal concentration of acylcarnitine in the urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null}]}}