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Up to: Disorder of peroxisomal transporter · Disorder of peroxisomal beta oxidation · Disorder of plasmalogens biosynthesis
Acyl-CoA binding domain containing protein 5 deficiency
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.
This condition has no sub-types.