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.
MONDO:0017986
disorder of plasmalogens biosynthesis
is_a
MONDO:0019233
disorder of peroxisomal beta oxidation
is_a
MONDO:0100372
disorder of peroxisomal transporter
is_a
ACBD5 deficiency
exact
acyl-CoA binding domain containing protein 5 deficiency
exact