ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Conclusions
Our investigations strongly suggest that ACBD5 plays an important role in sequestering C26-CoA in the cytosol and thereby facilitates transport into the peroxisome and subsequent β-oxidation. Accordingly, ACBD5 deficiency is a novel single peroxisomal enzyme deficiency caused by impaired VLCFA metabolism, leading to retinal dystrophy and white matter disease.

Source: Journal of Medical Genetics - April 24, 2017 Category: Genetics & Stem Cells Authors: Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., Pizzino, A., Schrader, M., Wanders, R. J. A., Vanderver, A., Waterham, H. R. Tags: Genetic screening / counselling Functional genomics Source Type: research