X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids

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.