{"orpha":88639,"name":"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HIBCH deficiency","Methacrylic aciduria","Valine metabolic defect"],"definition":"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88639/","orphanet_url":"https://www.orpha.net/en/disease/detail/88639","names":{"fr":{"name":"Neurodégénérescence par déficit en 3-hydroxyisobutyryl-CoA hydrolase","synonyms":["Acidurie méthacrylique","Déficit en HIBCH","Trouble du métabolisme de la valine"],"definition":"Neurodégénérescence par déficit en 3-hydroxyisobutyryl-CoA hydrolase se caractérise par un retard de développement moteur, une hypotonie et une neurodégénérescence progressive. A ce jour, quatre garçons ont été décrits. Ce syndrome est dû à une déficience de la 3-hydroxyisobutyryl-CoA hydrolase, enzyme impliquée dans le catabolisme de la valine. Différentes mutations touchant les deux allèles du gène <i>HIBCH</i>, codant la 3-hydroxyisobutyryl-CoA hydrolase ont été identifiées. Le mode de transmission n'est pas connu à ce jour."},"de":{"name":"Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel","synonyms":["HIBCH-Mangel","Metabolischer Valin-Defekt","Methacrylat-Azidurie"],"definition":"Dieses Syndrom ist gekennzeichnet durch verzögerte motorische Entwicklung, Muskelhypotonie und fortschreitende Neurodegeneration."},"es":{"name":"Neurodegeneración por deficiencia en 3-hidroxisobutiril-CoA-hidrolasa","synonyms":["Aciduria metacrílica","Defecto metabólico de la valina","Deficiencia de HIBCH"],"definition":"Es un trastorno caracterizado por retraso del desarrollo motor, hipotonía y neurodegeneración progresiva. Hasta la fecha, se ha descrito en cuatro niños. El síndrome está causado por mutaciones que afectan a los dos alelos del gen <i>HIBCH</i>, que codifica para la 3-hidroxiisobutiril-CoA hidrolasa. El modo de transmisión aún no ha sido establecido."},"it":{"name":"Neurodegenerazione da deficit di 3-idrossi-isobutirril-CoA idrolasi","synonyms":["Aciduria metacrilica","Deficit di HIBCH","Difetto del metabolismo della valina"]},"nl":{"name":"Neurodegeneratie door deficiëntie van 3-hydroxyisobutyryl-CoA-hydrolase","synonyms":["Defect van metabolisme van valine","HIBCH-deficiëntie","Methacrylacidurie"],"definition":"Neurodegeneratie door deficiëntie van 3-hydroxyisobutyryl-CoA-hydrolase wordt gekenmerkt door motorische ontwikkelingsachterstand, hypotonie en progressieve neurodegeneratie. Tot op heden werd het beschreven bij vier jongens. Het syndroom wordt veroorzaakt door mutaties die beide allelen van het gen <i>HIBCH</i>, dat codeert voor 3-hydroxyisobutyryl-CoA-hydrolase, aantasten. De manier van transmissie werd nog niet achterhaald."},"pt":{"name":"Neurodegenerescência por deficiência da 3-hidroxi-isobutiril-CoA hidrolase"},"pl":{"name":"Neurodegeneracja spowodowana niedoborem hydrolazy 3-hydroksyizobutyrylo-CoA","synonyms":["Acyduria metakrylowa","Defekt metabolizmu waliny","Niedobór HIBCH"]},"cs":{"name":"Neurodegenerace způsobená deficitem 3-hydroxyisobutyryl-CoA hydrolázy","synonyms":["Deficit HIBCH","Metakrylová acidurie","Porucha metabolismu valinu"]},"uk":{"name":"Нейродегенерація внаслідок дефіциту 3-гідроксиізобутирил-КоА-гідролази","synonyms":["Дефіцит HIBCH","Метакрилова ацидурія","Дефект обміну валіну"],"definition":"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established."},"zh":{"name":"3-羟基异丁酰-辅酶A水解酶缺乏所致神经退行性病变","synonyms":["缬氨酸代谢障碍"]},"tr":{"name":"3-hidroksiizobütiril-KoA hidrolaz eksikliğine bağlı nörodejenerasyon","synonyms":["HIBCH eksikliği","Metakrilik asidüri","Valin metabolik defekti"]}},"xrefs":[{"source":"OMIM","code":"250620","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1094336651"},{"source":"MONDO","code":"0009603","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562803","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342738","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13202","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","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":"HIBCH","name":"3-hydroxyisobutyryl-CoA hydrolase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17160907[PMID]_24299452[PMID]","hgnc":"4908","ensembl":"ENSG00000198130","omim":"610690","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"29703962[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29703962[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-10","source":"24299452[PMID]_25251209[PMID]_26163321[PMID]_7122152[PMID]","terms":[{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003287","label":"Abnormality of mitochondrial metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011334","label":"Facial shape deformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012697","label":"Small basal ganglia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002599","label":"Head titubation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null}]}}