Impaired Very Long-chain Acyl-CoA β-Oxidation in Human X-linked Adrenoleukodystrophy Fibroblasts Is a Direct Consequence of ABCD1 Transporter Dysfunction

Wiesinger, Christoph; Kunze, Markus; Regelsberger, G”nther; Forss-Petter, Sonja; Berger, Johannes

doi:10.1074/jbc.m112.445445

Impaired Very Long-chain Acyl-CoA β-Oxidation in Human X-linked Adrenoleukodystrophy Fibroblasts Is a Direct Consequence of ABCD1 Transporter Dysfunction

Background: ABCD1 is a peroxisomal ABC transporter whose dysfunction causes X-linked adrenoleukodystrophy (X-ALD). Results: β-Oxidation of C26:0 and C22:0 acyl-CoA esters is impaired in X-ALD. ABCD3 accounts for residual β-oxidation activity in X-ALD fibroblasts. Conclusion: ABCD1 mediates very l…