Dear Colleagues,

Adrenoleukodystrophy (ALD) is an X-linked disorder caused by variants in the peroxisome fatty acid transporter encoded by ABCD1 with resultant accumulation of very long chain fatty acids (VLCFA). While genetic abnormality is expressed in most cells, the predominant manifestations are in the adrenal cortex and nervous system. Affected males may develop adrenal disease at any age, and over a third of boys develop childhood cerebral adrenoleukodystrophy. These manifestations may be determined by routine surveillance and significant morbidity and mortality prevented providing a rationale for early detection by screening. In 2006, a method was developed for the use of the dried blood spot and tandem mass spectrometry to accurately identify affected individuals by measuring C26:0-lysosophosphatidyl choline. This method was shown to be adaptable to newborn screening, and in 2013, with the passage of Aidan’s Law, New York State began screening. Newborn screening has subsequently been added to the Recommended Uniform Screening Panel in 2016, and a majority of US states have either begun screening or in the planning stages. Other countries are also considering adopting this screening.

Newborn screening for ALD came with challenges and, as in many of the recently added disorders to the RUSP, has required development of a coordinated follow-up. The laboratory methodology used by varying programs to detect the elevated levels of C26:0-lysophosphatidyl choline varies, and the determination and harmonization of screening cut-offs continues. In addition, the surveillance monitoring of affected males has required new collaboration and coordination of subspecialities beyond the traditional newborn screened disorders. The detection of individuals beyond those of the affected newborn has brought new complexities to genetic counseling and care, and the identification of female carriers presents ethical questions.

This series of articles will seek to review where the field has been, the challenges faced, and propose the direction to resolve them. The lessons learned from the past efforts to institute this screening will hopefully assist programs looking to begin newborn screening for X-linked adrenoleukodystrophy.

Assoc. Prof. Ann B. Moser
Prof. Dr. Gerald V. Raymond
Guest Editors

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• Adrenoleukodystrophy
• Newborn screening
• Adrenal insufficiency
• Addison disease
• Cerebral demyelination
• X-linked
• C26:0-Lysophosphatidyl choline