{"orpha":653880,"name":"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Crotonase deficiency","ECHS1D"],"definition":"A rare neurometabolic disorder characterized typically by severe neonatal or early-infantile encephalopathy, lactic acidosis and basal ganglia involvement. Majority of the patients present with severe developmental delay, hypotonia, dystonia, seizures, failure to thrive, cardiomyopathy, liver steatosis and/or hepatomegaly and sensorineural hearing loss. Optic atrophy and nystagmus may also be present. A subset of patients (mostly with an onset in infancy) may present with a milder phenotype including paroxymal dystonia, subtle gait abnormalities. In these patients motor and cognitive development is near normal and usually no major cardiomyopathy, liver failure or severe lactic crises are present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-653880/","orphanet_url":"https://www.orpha.net/en/disease/detail/653880","names":{"fr":{"name":"Déficit mitochondrial en énoyl-CoA hydratase 1 à chaîne courte","synonyms":["Déficit en crotonase"],"definition":"Maladie neurométabolique rare caractérisée typiquement par une encéphalopathie sévère survenant à la naissance ou au cours de la petite enfance, une acidose lactique et une atteinte des noyaux gris centraux. La majorité des patients présentent un retard de développement sévère, une hypotonie, une dystonie, des convulsions, un retard de croissance, une cardiomyopathie, une stéatose hépatique et/ou une hépatomégalie, ainsi qu'une surdité neurosensorielle. Une atrophie optique et un nystagmus peuvent également être présents. Une partie des patients (principalement ceux chez qui la maladie se manifeste pendant la petite enfance) peut présenter un phénotype plus léger, comprenant une dystonie paroxystique et une démarche légèrement anormale. Chez ces patients, le développement moteur et cognitif est quasi normal et, en général, aucune cardiomyopathie majeure, insuffisance hépatique ou acidose lactique sévère n'est présente."},"de":{"name":"Defizienz der mitochondrialen kurzkettigen Enoyl-CoA-Hydratase 1","synonyms":["Crotonase-Defizienz","Crotonase-Mangel","ECHS1D","Mitochondriale kurzkettige Enoyl-CoA-Hydratase-1-Mangel"]},"es":{"name":"Deficiencia mitocondrial de enoil-CoA hidratasa 1 de cadena corta","synonyms":["Deficiencia de crotonasa","ECHS1D"],"definition":"Es un trastorno neurometabólico poco frecuente caracterizado típicamente por encefalopatía grave neonatal/en la primera infancia, acidosis láctica y afectación de los ganglios basales. La mayoría de los pacientes presenta retraso grave del desarrollo, hipotonía, distonía, crisis epilépticas, retraso del crecimiento, miocardiopatía, esteatosis hepática y/o hepatomegalia e hipoacusia neurosensorial. También pueden presentar atrofia óptica y nistagmo. Un subgrupo de pacientes (generalmente con inicio en la infancia) puede presentar un fenotipo más leve, que incluye distonía paroxística y alteraciones sutiles de la marcha. En estos pacientes, el desarrollo motor y cognitivo es casi normal y, por lo general, no presentan miocardiopatía grave, insuficiencia hepática ni crisis lácticas severas."},"it":{"name":"Deficit mitocondriale di enoil-CoA idratasi 1 a catena corta","synonyms":["Deficit di crotonasi","ECHS1D"]},"nl":{"name":"Deficiëntie van mitochondriaal korteketen enoyl-CoA-hydratase 1","synonyms":["Deficiëntie van crotonase","ECHS1D"],"definition":"Een zeldzame neurometabole aandoening, gekenmerkt door ernstige neonatale of vroeg infantiele encefalopathie, lactaatacidose en betrokkenheid van basale ganglia. De meerderheid van de patiënten vertoont ernstige ontwikkelingsachterstand, hypotonie, dystonie, insulten, niet-gedijen, cardiomyopathie, leversteatose en/of hepatomegalie en sensorineuraal gehoorverlies. Opticusatrofie en nystagmus kunnen ook aanwezig zijn. Een deel van de patiënten (meestal met aanvang in de zuigelingentijd) kan een milder fenotype vertonen, met onder meer paroxysmale dystonie en subtiele gangafwijkingen. Bij deze patiënten zijn motorische en cognitieve ontwikkeling nagenoeg normaal, en is meestal geen ernstige cardiomyopathie, leverfalen of ernstige lactaatacidose aanwezig."},"pt":{"name":"Deficiência de enoil-CoA hidratase 1 de cadeia curta mitocondrial","synonyms":["Deficiência de crotonase","ECHS1D"]},"pl":{"name":"Niedobór mitochondrialnej hydratazy 1 krótkołańcuchowego enoilo-CoA","synonyms":["Crotonase deficiency","ECHS1D"]},"cs":{"name":"Deficit mitochondriální enoyl-CoA hydratázy 1 s krátkým řetězcem","synonyms":["Crotonase deficiency","ECHS1D"]},"uk":{"name":"Дефіцит мітохондріальної коротколанцюгової енойл-КоА-гідратази 1","synonyms":["Дефіцит кротонази","ECHS1D"]}},"xrefs":[{"source":"OMIM","code":"616277","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.E1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014563","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14563","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225391","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79158,"name":"Cerebral organic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ECHS1","name":"enoyl-CoA hydratase, short chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26506407[PMID]","hgnc":"3151","ensembl":"ENSG00000127884","omim":"602292","loci":["10q26.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"25125611[PMID]_25393721[PMID]_26251176[PMID]_26000322[PMID]_26099313[PMID]_29575569[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25125611[PMID]_25393721[PMID]_26251176[PMID]_26000322[PMID]_26099313[PMID]_29575569[PMID]_ORPHANET"}],"phenotypes":null}