Peroxisomal Acyl-Coa Oxidase Deficiency

Peroxysomes were described by Christian DeDuve in the 1960s as cytoplasmic particles containing hydrogen peroxide-generating oxidases, thereafter, multiple manifestations of peroxysomal diseases were described. Peroxisomal acyl-CoA oxidase deficiency (PACD) was first described in the medical literature in the early 1990s after identifying a group of infants who presented with first described in two siblings with severe neonatal hypotonia, poor response to visual and auditory stimuli, retinitis pigmentosa, hepatomegaly with increased serum transaminases, and seizures but no facial dysmorphia or skeletal abnormalities such as Zellweger Disease (Poll-The et al. 1988). Since then, PACD has been recognized as a rare genetic spectrum of disorders that affects the metabolism of very long-chain fatty acids (VLCFAs) due to mutations in the ACOX-1 gene, which can cause accumulation of VLCFA in several organs and tissues. This leads to a buildup of toxic fatty acid metabolites, which can cause damage to the liver, brain, and other organs.