Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Clinically, it is characterized by neonatal hypotonia, seizures, severely delayed psychomotor development, and neurological deterioration.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C57 Peroxisomal diseases
H02096 Peroxisomal acyl-CoA oxidase deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06021 beta-Oxidation in peroxisome
H02096 Peroxisomal acyl-CoA oxidase deficiency