X‐linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect
- 1 July 1992
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (4) , 634-644
- https://doi.org/10.1007/bf01799620
Abstract
The adrenoleukodystrophies refer to three genetically distinct disorders all characterized by the accumulation of very long-chain fatty acids. In this paper we will review the biochemical aspects of these leukodystrophies with particular emphasis on the methods used to measure very long-chain fatty acid levels in plasma and their reliability. Furthermore, we will concentrate on the primary defect in the X-linked form of adrenoleukodystrophy.Keywords
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