Cr. Kennedy et al., X-LINKED ADRENOLEUKODYSTROPHY WITH NONDIAGNOSTIC PLASMA VERY LONG-CHAIN FATTY-ACIDS, Journal of Neurology, Neurosurgery and Psychiatry, 57(6), 1994, pp. 759-761
Measurement of plasma very long chain fatty acids is widely recognised
as a sensitive screening test for X-linked adrenoleukodystrophy (X-AL
D). 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'' concent
rations of plasma very long chain fatty acids. The implications for di
agnosis of X-ALD are discussed.