X-linked adrenoleukodystrophy is a genetic neurodegenerative disorder that is characterized biochemically by abnormal accumulation of very long chain fatty acids in all tissues of the body. In this Review, Moseret al.describe the biochemical, genetic and clinical features of this disorder, and discuss new approaches to its diagnosis and treatment, including newborn screening and the use of Lorenzo's oil.
- Hugo W Moser
- Asif Mahmood
- Gerald V Raymond
