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X-linked adrenoleukodystrophy. The Saudi experience.

M A Al-Essa1, N A Sakati, S M Bakheet

  • 1Department of Biological and Medical Research (MBC 03), King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.

Saudi Medical Journal
|September 5, 2001
PubMed
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X-linked adrenoleukodystrophy presents with diverse symptoms, including cognitive decline and seizures. Early detection is crucial as current treatments are ineffective once neurological damage occurs.

Area of Science:

  • Neuroscience
  • Genetics
  • Endocrinology

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting the adrenal glands and white matter of the nervous system.
  • It is caused by mutations in the ABCD1 gene, leading to the accumulation of very long chain fatty acids (VLCFAs).

Purpose of the Study:

  • To comprehensively evaluate the clinical, biochemical, neuroradiological, and neurophysiological characteristics of patients diagnosed with X-linked adrenoleukodystrophy.
  • To highlight the phenotypic variability and spectrum of presentations in X-ALD.

Main Methods:

  • Retrospective analysis of data from 10 patients diagnosed with X-ALD at King Faisal Specialist Hospital and Research Centre.
  • Inclusion of clinical symptoms, biochemical markers (VLCFAs), neuroimaging (MRI), and neurophysiological studies.

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Main Results:

  • Common symptoms include cognitive decline, visual and hearing impairment, behavioral changes, and seizures.
  • MRI revealed characteristic white matter changes in all patients. Elevated VLCFAs were observed in most patients.
  • Treatment responses were generally disappointing, emphasizing the need for early intervention.

Conclusions:

  • X-ALD exhibits significant phenotypic variability, making early diagnosis challenging.
  • Early identification and treatment of asymptomatic individuals are critical, as therapeutic options are limited once neurological symptoms manifest.