Related Experiment Videos
X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids
C R Kennedy1, J T Allen, A H Fensom
1Department of Paediatric Neurology, Southampton General Hospital, UK.
Journal of Neurology, Neurosurgery, and Psychiatry
|June 1, 1994
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.