Peroxisomal Acyl-CoA Oxidase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the ACOX1 gene, encoding peroxisomal acyl-coenzyme A oxidase 1. It is characterized by increased concentrations of serum VLCFA and lack of ACOX1 activity. The clinical manifestations of this disease are similar to those of disorders of peroxisomal assembly.

**Synonyms:** - Straight-Chain Acyl-CoA Oxidase Deficiency