/acyl-CoA binding domain containing protein 5 deficiency

acyl-CoA binding domain containing protein 5 deficiency

Rare Disease

MONDO:0100112

Also Known As

ACBD5 deficiencyacyl-CoA binding domain containing protein 5 deficiency

Definition

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.