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X-linked adrenoleukodystrophy.

Hugo W Moser1, Asif Mahmood, Gerald V Raymond

  • 1Neurogenetics Research Center, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA.

Nature Clinical Practice. Neurology
|March 8, 2007
PubMed
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X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting males and carriers. Early diagnosis via newborn screening and genetic assays is crucial for preventing severe symptoms and enabling effective genetic counseling and therapy.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • X-linked adrenoleukodystrophy (X-ALD) results from ABCD1 gene mutations, impacting peroxisomal function.
  • Affecting approximately 1:20,000 males, X-ALD presents diverse phenotypes including cerebral, myelopathic, and Addison disease forms.
  • Carrier females can also develop spastic paraparesis.

Purpose of the Study:

  • To highlight the genetic basis and varied clinical presentations of X-ALD.
  • To emphasize the importance of early diagnosis and available diagnostic assays.
  • To introduce advancements in newborn screening for X-ALD.

Main Methods:

  • Genetic analysis of the ABCD1 gene.
  • Biochemical assays for very long chain fatty acids (VLCFAs) in plasma and cells.

Related Experiment Videos

  • Prenatal diagnosis through chorion villus sampling and amniocentesis.

    • Main Results:

    • X-ALD phenotypes are often misdiagnosed, necessitating reliable diagnostic tools.
    • VLCFA assays and mutation analysis enable presymptomatic, prenatal, and carrier diagnosis.
    • Newborn screening methods show promise for early detection.

    Conclusions:

    • Timely diagnosis of X-ALD is essential for genetic counseling and therapeutic intervention.
    • Early detection and treatment can prevent Addison disease and mitigate severe childhood cerebral forms.
    • Implementation of newborn screening will significantly improve X-ALD management.