pseudoneonatal adrenoleukodystrophy; peroxisomal acyl-CoA oxidase deficiency

Pathology

• peroxisomal single-enzyme disorder
• decreased or absent peroxisome acyl-CoA oxidase activity
• peroxisomes are intact & functioning

Genetics

• associated with defects in ACOX1

Clinical manifestations

• mental retardation
• leukodystrophy
• seizures
• mild hepatomegaly
• hearing defici

Laboratory

• plasma very-long chain fatty acids are increased

More general terms

• adrenoleukodystrophy
• peroxisomal biogenesis disorder

Database

• OMIM: https://mirror.omim.org/entry/264470