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

Ann B Moser; Elisa Seeger; Gerald V Raymond

doi:10.3390/ijns8010016

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

Int J Neonatal Screen. 2022 Feb 18;8(1):16. doi: 10.3390/ijns8010016.

Authors

Ann B Moser¹, Elisa Seeger², Gerald V Raymond³

Affiliations

¹ Kennedy Krieger Institute, Baltimore, MD 21205, USA.
² ALD Alliance, Brooklyn, NY 11218, USA.
³ Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.

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: adrenal insufficiency; adrenoleukodystrophy; cerebral adrenoleukodystrophy; dried blood spots; newborn screening.