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Adrenoleukodystrophy in a mother and son.
R H Simpson1, J Rodda, C J Reinecke
1Postgraduate Medical School, University of Exeter, UK.
Journal of Neurology, Neurosurgery, and Psychiatry
|September 1, 1987
Summary
This study documents a rare case of adrenoleukodystrophy in a 28-year-old female carrier, presenting with symptoms similar to her son. The findings highlight the clinical manifestation of this X-linked inherited neurological disease in adult females.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder affecting the adrenal glands and white matter of the brain.
- ALD is caused by mutations in the ABCD1 gene, leading to impaired very long-chain fatty acid (VLCFA) metabolism.
- While typically affecting young boys, ALD can manifest in female carriers, though less commonly.