PT  - JOURNAL ARTICLE
AU  - C R Kennedy
AU  - J T Allen
AU  - A H Fensom
AU  - S J Steinberg
AU  - R Wilson
TI  - X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.
AID  - 10.1136/jnnp.57.6.759
DP  - 1994 Jun 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 759--761
VI  - 57
IP  - 6
4099  - http://jnnp.bmj.com/content/57/6/759.short
4100  - http://jnnp.bmj.com/content/57/6/759.full
SO  - J Neurol Neurosurg Psychiatry1994 Jun 01; 57
AB  - 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.