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Acyl-CoA binding domain containing protein 5 deficiency
rareA 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.
- Identifiers
- MONDO:0100112
- Causal genes
- ACBD5
- Part of
- Disorder of peroxisomal beta oxidationDisorder of peroxisomal transporterDisorder of plasmalogens biosynthesis
- Also known as
- ACBD5 deficiency
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