A girl suffering from neurological symptoms and vision impairment showed an accumulation of very-long-chain fatty acids (VLCFAs). VLCFA are normally degraded in peroxisomes. In this paper we show that the VLCFA accumulation in the patient is due to a defect of the peroxisomal protein ACBD5. The patient had a homozygous mutation, resulting in the complete absence of ACBD5 protein. Functional ACBD5 could rescue the defect in cells of the patient. Our study revealed ACBD5 deficiency as a novel peroxisomal disorder resulting in VLCFA accumulation. (By Dr. Sacha Ferdinandusse, http://jmg.bmj.com/content/early/2016/10/31/jmedgenet-2016-104132 )
ACBD5 expression and localization in fibroblasts from the ACBD5-deficient patient and control subjects
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