ABCD1 and adrenomyeloneuropathy: A summary of all the AMN cases reported worldwide between 1975 and 2019 found that the mutations most frequently occurred in exon 1 of the ABCD1 gene, and most of them were missense mutations.[2] Genetic testing of our patient revealed a nucleotide mutation in exon 1 of the ABCD1 gene with a change from C to T in the coding region 761 (Fig. 3A), which resulted in a missense mutation in the amino acid 254 from threonine to methionine.