X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

@article{Geel1997XLA,
  title={X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.},
  author={Bjorn M van Geel and Johanna Assies and Ronald J. A. Wanders and Peter G. Barth},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  year={1997},
  volume={63 1},
  pages={4-14}
}
X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100,000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and… CONTINUE READING