{"orpha":391428,"name":"HSD10 disease, infantile type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["2-methyl-3-hydroxybutyric aciduria, classic type","2-methyl-3-hydroxybutyric aciduria, infantile type","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type","HSD10 deficiency, classic type","HSD10 deficiency, infantile type","HSD10 disease, classic type","MHBD deficiency, classic type","MHBD deficiency, infantile type"],"definition":"A clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391428/","orphanet_url":"https://www.orpha.net/en/disease/detail/391428","names":{"fr":{"name":"Maladie HSD10 type infantile","synonyms":["Acidurie 2-méthyl-3-hydroxybutyrique type classique","Acidurie 2-méthyl-3-hydroxybutyrique type infantile","Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase type classique","Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase type infantile","Déficit en HSD10 type classique","Déficit en HSD10 type infantile","Déficit en MHBD type classique","Déficit en MHBD type infantile","Maladie HSD10 type classique"],"definition":"Sous-type clinique de la maladie HSD10, une maladie neurométabolique rare. Les garçons atteints de la maladie peuvent présenter une léthargie, des difficultés à s'alimenter et des signes de dysfonctionnement mitochondrial pendant la période néonatale. S'ensuivent un retard de développement et un tonus musculaire anormal. Les manifestations caractéristiques de la maladie sont une neurodégénérescence progressive et une cardiomyopathie, qui se manifestent généralement entre l'âge de 6 mois et 2 ans par une régression du développement, une perte progressive de la vision et de l'audition, une épilepsie et autres symptômes neurologiques, et une cardiomyopathie sévère. Les examens biologiques mettent en évidence des signes de dysfonctionnement mitochondrial, ainsi qu'une excrétion urinaire accrue de métabolites spécifiques à l'isoleucine. La maladie est souvent létale entre l'âge de 2 et 4 ans."},"de":{"name":"HSD10-Krankheit, infantiler Typ","synonyms":["2-Methyl-3-Hydroxybutyrazidurie, infantiler Typ","2-Methyl-3-Hydroxybutyrazidurie, klassischer Typ","2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel, infantiler Typ","2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel, klassischer Typ","HSD10-Krankheit, klassischer Typ","HSD10-Mangel, infantiler Typ","HSD10-Mangel, klassischer Typ","MHBD-Mangel, infantiler Typ","MHBD-Mangel, klassischer Typ"]},"es":{"name":"Enfermedad de HSD10 tipo infantil","synonyms":["Aciduria 2-metil-3-hidroxibutírica tipo clásico","Aciduria 2-metil-3-hidroxibutírica tipo infantil","Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa tipo clásico","Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa tipo infantil","Deficiencia de HSD10 tipo clásico","Deficiencia de HSD10 tipo infantil","Deficiencia de MHBD tipo clásico","Deficiencia de MHBD tipo infantil","Enfermedad de HSD10 tipo clásico"],"definition":"Es un subtipo clínico de la enfermedad HSD10, un trastorno neurometabólico poco frecuente. Los varones afectados pueden mostrar letargo, mala alimentación y evidencia de disfunción mitocondrial en el período neonatal, con un consiguiente retraso leve del desarrollo y un tono muscular anómalo. El distintivo de la enfermedad es la neurodegeneración progresiva y la cardiomiopatía, que generalmente se manifiesta entre los 6 meses y los 2 años de edad con regresión del desarrollo, pérdida visual y auditiva progresiva, epilepsia y otros síntomas neurológicos, y cardiomiopatía grave. Los análisis de laboratorio muestran signos de disfunción mitocondrial y un aumento de la excreción urinaria de metabolitos específicos de isoleucina. La enfermedad suele ser fatal alrededor de los 2-4 años de edad."},"it":{"name":"Malattia HSD10, forma infantile","synonyms":["Aciduria 2-metil-3-idrossibutirril-CoA deidrogenasi, forma classica","Aciduria 2-metil-3-idrossibutirril-CoA deidrogenasi, forma infantile","Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi, forma classica","Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi, forma infantile","Deficit di HSD10, forma classica","Deficit di HSD10, forma infantile","Deficit di MHBD, forma classica","Deficit di MHBD, forma infantile","Malattia HSD10, forma classica"],"definition":"La forma infantile della malattia HSD10 è un sottotipo clinico della malattia HSD10, una malattia neurometabolica rara. I maschi affetti presentano letargia, difficoltà di alimentazione, e disfunzione mitocondriale nel periodo neonatale, con conseguente lieve ritardo dello sviluppo ed anomalie del tono muscolare. Sono caratteristiche della malattia la degenerazione neurologica progressiva e la cardiomiopatia, che di solito esordiscono tra i sei mesi e i due anni con regressione dello sviluppo, perdita progressiva della vista e dell'udito, epilessia ed altri sintomi neurologici, e cardiomiopatia grave. Gli esami di laboratorio evidenziano i segni della disfunzione mitocondriale e l'aumento di specifici metaboliti dell'isoleucina nelle urine. Di solito la malattia esita nel decesso attorno ai 2-4 anni di vita."},"nl":{"name":"HSD10-ziekte, infantiel type","synonyms":["2-methyl-3-hydroxybutaanzuuracidurie, infantiel type","2-methyl-3-hydroxybutaanzuuracidurie, klassiek type","2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie, infantiel type","2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie, klassiek type","HSD10-deficiëntie, infantiel type","HSD10-deficiëntie, klassiek type","HSD10-ziekte, klassiek type","MHBD-deficiëntie, klassiek type","MHDB-deficiëntie, infantiel type"],"definition":"HSD10-ziekte, infantiel type, is een klinisch subtype van HSD10-ziekte, een zeldzame neurometabole stoornis. Betrokken jongens vertonen mogelijk lethargie, eetproblemen en aanwijzingen voor mitochondriale disfunctie in de neonatale periode, met vervolgens milde ontwikkelingsachterstand en abnormale spiertonus. Het typische kenmerk van de ziekte is progressieve neurodegeneratie en cardiomyopathie, die zich meestal manifesteert tussen de leeftijd van 6 maanden en 2 jaar met ontwikkelingsregressie, progressief visueel en gehoorverlies, epilepsie en andere neurologische symptomen, en ernstige cardiomyopathie. Laboratoriumonderzoeken tonen tekenen van mitochondriale disfunctie, en verhoogde excretie van specifieke metabolieten van isoleucine in de urine. De ziekte is vaak fataal rond de leeftijd van 2-4 jaar."},"pt":{"name":"Doença HSD10, tipo infantil"},"pl":{"name":"Choroba HSD10 typ dziecięcy","synonyms":["Acyduria 2-metylo-3-hydroksymasłowa, typ dziecięcy","Acyduria 2-metylo-3-hydroksymasłowa, typ klasyczny","Choroba HSD10, typ klasyczny","Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA, typ dziecięcy","Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA, typ klasyczny","Niedobór HSD10, typ dziecięcy","Niedobór HSD10, typ klasyczny","Niedobór MHBD, typ dziecięcy","Niedobór MHBD, typ klasyczny"],"definition":"*Choroba HSD10 typ niemowlęcy jest klinicznym podtypem choroby HSD10, rzadkiej choroby neurometabolicznej. Chorzy chłopcy w okresie noworodkowym mogą wykazywać nadmierną senność, brak apetytu i objawy zaburzonej funkcji mitochondriów, z późniejszym łagodnym opóźnieniem rozwoju i nieprawidłowym napięciem mięśni. Cechą charakterystyczną tej choroby jest postępująca neurodegeneracja i kardiomiopatia, które zwykle objawiają się w wieku od 6 miesięcy do 2 roku życia, towarzyszy regres rozwoju, postępująca utratą wzroku i słuchu, padaczka i inne objawy neurologiczne oraz ciężką kardiomiopatia. Badania laboratoryjne odzwierciedlają nieprawidłową funkcję mitochondriów i obserwuje się zwiększone wydalanie z moczem określonych metabolitów izoleucyny. Choroba często prowadzi do zgonu w wieku około 2-4 lat."},"cs":{"name":"Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, infantilní typ","synonyms":["2-methyl-3-hydroxymáselná acidurie, klasický typ","2-methyl-3-hydroxymáselná acidurie, infantilní typ","Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, klasický typ","Deficit 2-methyl-3-hydroxybutyryl-CoA deyhdrogenázy, infantilní typ","HSD10 deficit, klasický typ","HSD10 deficit, infantilní typ","Deficit MHBD, klasický typ","Deficit MHBD, infantilní typ"]},"uk":{"name":"Хвороба HSD10, інфантильний тип","synonyms":["2-метил-3-гідроксимасляна ацидурія, класичний тип","2-метил-3-гідроксимасляна ацидурія, інфантильний тип","Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази, класичний тип","Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази, інфантильний тип","Дефіцит HSD10, класичний тип","Дефіцит HSD10, інфантильний тип","Хвороба HSD10, класичний тип","Дефіцит MHBD, класичний тип","Дефіцит MHBD, інфантильний тип"],"definition":"A clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age."},"zh":{"name":"婴儿型HSD10病","synonyms":["婴儿型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型缺陷症婴儿型是HSD10病的一个临床亚型，是一种罕见的神经代谢疾病。受影响的男孩可能会在新生期表现出嗜睡、进食不良和线粒体功能障碍的迹象，随后会出现轻度发育迟缓和肌张力异常。本病的特点是常在6个月到2岁之间表现出进行性的神经变性和心肌病，伴有发育倒退、进行性视力和听力损失、癫痫及其他神经症状和严重的心肌病。实验室检查显示有线粒体功能障碍的迹象，而尿中特异性异亮氨酸代谢物的排泄增加。本病常在2-4岁左右致命。"},"tr":{"name":"HSD10 hastalığı, infantil tip","synonyms":["HSD10 hastalığı, klasik tip","MHBD eksikliği, klasik tip","HSD10 eksikliği, klasik tip","MHBD eksikliği, infantil tip","HSD10 eksikliği, infantil tip","2-metil-3-hidroksibütirik asidüri, klasik tip","2-metil-3-hidroksibütirik asidüri, infantil tip","2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği, klasik tip","2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği, infantil tip"]}},"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":"0018322","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680025","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":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-20","source":"11102558[PMID]_26950678[PMID]_16148061[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003287","label":"Abnormality of mitochondrial metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500170","label":"Abnormal concentration of acylcarnitine in the urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002180","label":"Neurodegeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010936","label":"Abnormality of the lower urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012707","label":"Elevated brain lactate level by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007030","label":"Nonprogressive encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000749","label":"Paroxysmal bursts of laughter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030391","label":"Spoken Word Recognition Deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}