BTD and X-linked adrenoleukodystrophy: Sixteen patients had mutations in the ARSA gene (MLD), 8 in ABCD1 gene (X-ALD), 12 in ASPA gene (CD), 3 in GALC (GLB), 7 in MLC1 gene (MLC), 1 in GFAP gene, 1 in PLP1 gene (PMD), 6 in GJC2 gene (PMLD), 11 in HEXA, 5 in HEXB, 2 in L2HGDH, 1 in BTD and 1 in SCL17A5 gene (Table 1).