Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALD
Cecilie S. Videbæk, Danielle H.J. Kim, Hannah S. Hart, Robert E. Thompson, Razina Aziz‐Bose, Lachelle Purnell-Savoy, Sonum Bharill, Ezzat Hashemi, Joseph Orsini, Elisa Seeger, Miranda McAuliffe, Isha N. Srivastava, Jennifer MacLean, Sejal Shah, Ali S. Fatemi, , Keith P. van Haren
The paper evaluates disease outcomes in boys with ABCD1 variants detected via newborn screening for ALD, finding that VUS variants are associated with lower rates of adrenal insufficiency and lower C26:0-LPC levels compared to pathogenic variants.
medRxiv · Jul 2, 2026 · PreprintGenetic & Genomic Medicine