X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

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  • Bela R. Turk
    Hugo W Moser Research Institute Kennedy Krieger Institute Baltimore MD USA
  • Christiane Theda
    Neonatal Services Royal Women's Hospital Murdoch Children's Research Institute and University of Melbourne Melbourne VIC Australia
  • Ali Fatemi
    Hugo W Moser Research Institute Kennedy Krieger Institute Baltimore MD USA
  • Ann B. Moser
    Hugo W Moser Research Institute Kennedy Krieger Institute Baltimore MD USA

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<jats:title>Abstract</jats:title><jats:p>Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal <jats:italic>ABCD1</jats:italic> gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long‐chain fatty acid (VLCFA) chain length‐dependent dysregulation of endoplasmic reticulum stress and mitochondrial radical generating systems inducing cell death pathways has been shown, providing the rationale for therapeutic moiety‐specific VLCFA reduction and antioxidant strategies. The continuing increase in newborn screening programs and promising results from ongoing and recent therapeutic investigations provide hope for ALD.</jats:p>

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