Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective

• Main Authors: Julia Prinzi (Author), Marzia Pasquali (Author), Judith A. Hobert (Author), Rachel Palmquist (Author), Kristen N. Wong (Author), Stephanie Francis (Author), Irene De Biase (Author)
• Format: Book
• Published: MDPI AG, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the <i>ABCD1</i> gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifests in both sexes with a spectrum...