Disease : Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy)

Name : Acyl-CoA oxidase deficiency (Pseudoneonatal adrenoleukodystrophy)
Description : Deficiency for acyl-CoA oxidase 1 (ACOX1). Symptoms: abnormal presence of VLCFAs, generalized hypotonia, severe delayed motor development and sensory deafness.
Gene(s) :
Localization(s) :
  • Peroxisome
Functional category(ies) :
Links of Interest: