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Peroxisomal acyl-CoA oxidase deficiency

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Pseudo-NALD
    • Pseudo-neonatal adrenoleukodystrophy
    • Pseudoadrenoleukodystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E71.3
  • OMIM: 264470
  • UMLS: C0342871  C1849678
  • MeSH: C536662
  • GARD: 4543
  • MedDRA: -

Detailed information


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