The one case with a low score and a possibly ALD interpretation was clinically diagnosed as ALD without an ABCD1 variant or deletion, with specialist’s notes stating that: (1) The infant might have a non-coding ABCD1 variant not detectable by available tests, (2) the case could be a false positive, and (3) the infant might have other peroxisomal disorder. This evidence concerns the gene ABCD1 and peroxisomal disease.