label: acyl-CoA binding domain containing protein 5 deficiency
label_lc: acyl-coa binding domain containing protein 5 deficiency
description: "A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay."