Peroxisomal acyl-CoA oxidase deficiency
Peroxisomal acyl-CoA oxidase deficiency
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.
Also known as ACOX1 deficiency, peroxisomal acyl-CoA oxidase deficiency, pseudo-NALD, pseudo-neonatal adrenoleukodystrophy, Pseudoadrenoleukodystrophy — per MONDO