Article
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
Developmental neuroscience - 1 Jan 1991
Moser H W, Moser A B, Naidu S, Bergin A
Abstract excerpt
Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex. It is associated with an abnormal accumulation of saturated very long chain fatty acids and can be diagnosed by demonstrating an excess of these substances in plasma or red cells. Our laboratory has identified more than 900 hemizygotes and 1,000 heterozygotes. Approximately 50%...
Topics
- Addison Disease
- Adolescent
- Adrenal Glands
- Adrenoleukodystrophy
- Brain
- Child
- Coenzyme A Ligases
- Cognition
- False Negative Reactions
- Fatty Acids
- Female
- Genetic Carrier Screening