X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.
Open Access
- 1 June 1994
- journal article
- case report
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 57 (6) , 759-761
- https://doi.org/10.1136/jnnp.57.6.759
Abstract
Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed.Keywords
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