Article
Clinical and genetic aspects of X-linked adrenoleukodystrophy.
Neuropediatrics - 1 Feb 1998
Gärtner J, Braun A, Holzinger A, Roerig P, Lenard H G, Roscher A A
Abstract excerpt
X-linked adrenoleukodystrophy (ALD), a leukodystrophy characterized by abnormal accumulation of saturated very long chain fatty acids in brain white matter and adrenal cortex, is the most common inherited peroxisomal disorder. The biochemical defect is localized to the level of lignoceroyl-CoA sy...
Topics
- Adolescent
- Adrenoleukodystrophy
- Adult
- Age of Onset
- Bone Marrow Transplantation
- Carrier Proteins
- Child
- Disease Progression
- Fatty Acids
- Female
- Genetic Linkage
- Humans
- Male
- Membrane Proteins
- Microbodies
- Mutation
- Peroxisomal Disorders
- Phenotype