X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

• Published in: International journal of developmental neuroscience Vol. 80; no. 1; pp. 52 - 72
• Main Authors: Turk, Bela R., Theda, Christiane, Fatemi, Ali, Moser, Ann B.
• Format: Journal Article
• Language: English
• Published: United States John Wiley and Sons Inc 01.02.2020
• Subjects: Adrenoleukodystrophy - diagnosis; ATP Binding Cassette Transporter, Subfamily D, Member 1 - genetics; clinical trials; Endoplasmic Reticulum Stress; Humans; Infant, Newborn; inflammation; Mutation; Neonatal Screening; newborn screening; therapy; very long‐chain fatty acids; X‐linked adrenoleukodystrophy; very long-chain fatty acids; clinical trials; inflammation; newborn screening; therapy; X-linked adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell‐ and tissue‐specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview...