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

Abstract

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.

Keywords

• adrenoleukodystrophy
• newborn screening
• dried blood spots
• adrenal insufficiency
• cerebral adrenoleukodystrophy