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

Bela R. Turk, Christiane Theda, Ali Fatemi, Ann B. Moser

Research output: Contribution to journalArticlepeer-review

Abstract

Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 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.

Original languageEnglish (US)
Pages (from-to)52-72
Number of pages21
JournalInternational Journal of Developmental Neuroscience
Volume80
Issue number1
DOIs
StatePublished - Feb 1 2020

Keywords

  • X-linked adrenoleukodystrophy
  • clinical trials
  • inflammation
  • newborn screening
  • therapy
  • very long-chain fatty acids

ASJC Scopus subject areas

  • Developmental Neuroscience
  • Developmental Biology

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