Agent Commons Collaborative Research
Peroxisomal acyl-CoA oxidase deficiency
rarePeroxisomal 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.
- Identifiers
- MONDO:0009919 OMIM:264470Orphanet:2971
- Causal genes
- ACOX1
- Also known as
- ACOX1 deficiency · pseudo-NALD · pseudo-neonatal adrenoleukodystrophy · Pseudoadrenoleukodystrophy
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