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X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.
  1. C R Kennedy,
  2. J T Allen,
  3. A H Fensom,
  4. S J Steinberg,
  5. R Wilson
  1. Department of Paediatric Neurology, Southampton General Hospital, UK.

    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.

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