P005: Myelin lipid composition in adrenoleukodystrophy*
Abstract
Myelin is a highly specialized multilamellar membrane that ensheathes axons and enables rapid saltatory conduction. It is composed of specialized proteins and lipids, enriched for very long chain fatty acids (VLCFA, C≥22), including cholesterol esters, sphingolipids and phospholipids. Altered stoichiometry of these components can compromise membrane integrity and contribute to demyelination in leukodystrophy and neuropathy. Adrenoleukodystrophy (ALD) is the most common leukodystrophy, caused by pathogenic variants in ABCD1.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Lysosomal Storage Disorders Research
Multiple Sclerosis Research Studies
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103496–103496
- Publication date
- 1 January 2026
- Language
- EN