Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

• Main Authors: Craig V. Baker (Author), Alyssa Cady Keller (Author), Richard Lutz (Author), Karen Eveans (Author), Krystal Baumert (Author), James C. DiPerna (Author), William B. Rizzo (Author)
• Format: Book
• Published: MDPI AG, 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in <i>ABCD1</i> resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two neurologic phenotypes: a rapidly...