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 ABCD1 gene. 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: 6/22/2009
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