Search
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
Related
acyl-coenzyme A oxidase 1 gene
peroxisomal acyl-coenzyme A oxidase 1; AOX; palmitoyl-CoA oxidase; straight-chain acyl-CoA oxidase; SCOX (ACOX1)
peroxisome
General
adrenoleukodystrophy
peroxisomal biogenesis disorder
Properties
DEFICIENCY: peroxisome
peroxisomal acyl-coenzyme A oxidase 1
Database Correlations
OMIM 264470
References
OMIM :accession 264470