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Genetic and Rare Diseases Information Center (GARD)

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Adrenoleukodystrophy X-linked


Other Names for this Disease

  • Adrenoleukodystrophy
  • ALD
  • X-ALD
  • X-linked adrenoleukodystrophy
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Your Question

Can X-linked adrenoleukodystrophy appear in a 1-year-old?

Our Answer

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Can X-linked adrenoleukodystrophy appear in a 1-year-old?

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.[1] Three males have been described with a condition called CADDS (contiguous ABCD1 DXS1357E deletion syndrome), which is very similar to X-linked adrenoleukodystrophy.[2] 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

References
Other Names for this Disease
  • Adrenoleukodystrophy
  • ALD
  • X-ALD
  • X-linked adrenoleukodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.