Q:

The MOST specific and important laboratory finding in X-llnked adrenoleukodystrophy (ALD) is elevated level of

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The MOST specific and important laboratory finding  in X-llnked adrenoleukodystrophy (ALD) is elevated level of


  1. cortisol
  2. aidosterone
  3. epinephrine
  4. very long chain fatty acid
  5. adrenocorticotrophic hormone

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(D). The most specific and important laboratory finding is the demonstration of abnormally high levels of VLCFA in plasma, red blood cells, or cultured skin fibroblasts. The test should be performed in a laboratory that has experience with this specialized procedure. Positive results are obtained in all male patients with ALD and in approximately 85% of female carriers of ALD.

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