Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

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Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.

Original languageEnglish (US)
Article number16
JournalInternational Journal of Neonatal Screening
Issue number1
StatePublished - Mar 2022


  • Adrenal insufficiency
  • Adrenoleukodystrophy
  • Cerebral adrenoleukodystrophy
  • Dried blood spots
  • Newborn screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Microbiology (miscellaneous)
  • Obstetrics and Gynecology


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