{"orpha":2971,"name":"Peroxisomal acyl-CoA oxidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudo-NALD","Pseudo-neonatal adrenoleukodystrophy","Pseudoadrenoleukodystrophy"],"definition":"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2971/","orphanet_url":"https://www.orpha.net/en/disease/detail/2971","names":{"fr":{"name":"Déficit en acyl-CoA oxydase","definition":"Le déficit en acyl-CoA oxydase est une maladie neurodégénérative rare appartenant au groupe des maladies péroxysomales héréditaires et qui se caractérise par une hypotonie et des convulsions en période néonatale et une régression neurologique pendant la petite enfance."},"de":{"name":"Acyl-CoA-Oxidase-Mangel, peroxisomaler","synonyms":["Acyl-CoA-Oxydase-Mangel","Pseudo-NALD","Pseudoadrenoleukodystrophie","Pseudoadrenoleukodystrophie, neonatale"],"definition":"Der Peroxisomale Acyl-CoA-Oxidase-Mangel ist eine seltene neurodegenerative Erkrankung aus der Gruppe der erblichen peroxisomalen Krankheiten."},"es":{"name":"Deficiencia de acil CoA oxidasa peroxisomal","synonyms":["Pseudo-NALD","Pseudoadrenoleucodistrofia","Pseudoadrenoleucodistrofia neonatal"],"definition":"El déficit de acil Coa oxidasa peroxisomal es un trastorno raro neurodegenerativo, que pertenece al grupo de los trastornos hereditarios peroxisomales y que se caracteriza por hipotonía y convulsiones en el período neonatal, y regresión neurológica durante la primera infancia."},"it":{"name":"Deficit perossisomiale di acil-CoA ossidasi","synonyms":["Pseudo-NALD","Pseudoadrenoleucodistrofia","Pseudoadrenoleucodistrofia neonatale"]},"nl":{"name":"Peroxisomale acyl-CoA-oxidasedeficiëntie","synonyms":["Pseudo-neonatale adrenoleukodystrofie","Pseudoadrenoleukodystrofie","Pseudo-NALD"],"definition":"Een zeldzame neurodegeneratieve aandoening die behoort tot de groep van erfelijke peroxisomale ziekten, en die gekarakteriseerd wordt door hypotonie en insulten in de neonatale periode en neurologische regressie in de vroege zuigelingentijd."},"pt":{"name":"Deficiência de acil-CoA oxidase peroxissomal","synonyms":["Pseudo-adrenoleucodistrofia"],"definition":"A deficiência da acil-CoA oxidase peroxisomal é uma doença neurodegenerativa rara que pertence ao grupo das doenças peroxisomais hereditárias e é caracterizada por hipotonia e convulsões no período neonatal e regressão neurológica no início da infância."},"pl":{"name":"Peroksysomalny Niedobór oksydazy acetylo-CoA","synonyms":["Pseudoadrenoleukodystrofia","Pseudo-NALD","Pseudo-noworodkowa adrenoleukodystrofia"]},"cs":{"name":"Deficit peroxizomální acyl-CoA oxidázy","synonyms":["Pseudo-NALD","Pseudo-novorozenecká adrenoleukodystrofie","Pseudoadrenoleukodystrofie"]},"uk":{"name":"Дефіцит пероксисомальної ацил-КоА-оксидази","synonyms":["Псевдоадренолейкодистрофія","Псевдо-НАЛД","Псевдонеонатальна адренолейкодистрофія"],"definition":"Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy."},"zh":{"name":"过氧化物酶体酰基辅酶A氧化酶缺乏症","synonyms":["假性肾上腺脑白质营养不良"]},"tr":{"name":"Peroksizomal asil-CoA oksidaz eksikliği","synonyms":["Psödo-NALD","Psödoadrenolökodistrofi","Psödo-yenidoğan adrenolökodistrofi"]}},"xrefs":[{"source":"OMIM","code":"264470","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C57.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"927825451"},{"source":"MONDO","code":"0009919","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536662","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849678","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4543","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79188,"name":"Peroxisomal beta-oxidation disorder","classifications":[150,156,233]},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACOX1","name":"acyl-CoA oxidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22508517[PMID]","hgnc":"119","ensembl":"ENSG00000161533","omim":"609751","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null}]}}