Although PolyPhen-2 predicted that the biophysical consequences of the variant c.1126G > C (E376Q) of ABCD1 were likely to be functionally benign, other variants in the same exon, such as c.1114A > T (p.K372*) and c.1137C > G (p.S379R), have been reported to lead to ALD [15]. This evidence concerns the gene ABCD1 and adrenoleukodystrophy.