Cultured skin fibroblasts from nine patients with the clinical diagnosis of adrenoleukodystrophy (ALD) and 16 control individuals were studied for fatty acid compositions. Total lipids from 7 of the 9 ALD samples showed a high content of hexacosanoic acid (26:0) and a higher ratio of 26:0 to 22:0 acids (0.78-0.92) than the controls (0.03 to 0.09). The samples obtained from two patients with atypical marifestations had a ratio similar to control values. A similar abnormality was demonstrated in the sphingomyelin fatty acids. Diagnosis of ALD and study of its disease mechanism may thus be feasible in skin fibroblast cultures.
|Original language||English (US)|
|Number of pages||7|
|Journal||Biochemical and Biophysical Research Communications|
|State||Published - May 15 1978|
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology