Neurologic symptoms have appeared in children with X-linked adrenoleukodystrophy as early as 2 years and 9 months, although symptoms rarely appear before age 3. Three males have been described with a condition called CADDS (contiguous ABCD1 DXS1357E deletion syndrome), which is very similar to X-linked adrenoleukodystrophy. These three males had symptoms at birth and developed neonatal cholestasis, hypotonia, and developmental delay. Each of these cases was caused by a large deletion on the X chromosome that removed a portion of the ABCD1gene. Mutations in the ABCD1 gene typically cause X-linked adrenoleukodystrophy. Researchers suspect that the signs and symptoms of CADDS are different from X-linked adrenoleukodystrophy because of the deletion of additional genetic material on the X chromosome.
Last updated: 9/13/2016
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Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders. American Journal of Human Genetics. June 2002; 70:1520-1531. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC419992/.