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[From gene to disease; X-linked adrenoleukodystrophy]
M Engelen1, S Kemp, B M van Geel
1Academisch Medisch Centrum/Universiteit van Amsterdam, Afd. Neurologie, Amsterdam.
Nederlands Tijdschrift Voor Geneeskunde
|May 22, 2008
Summary
X-linked adrenoleukodystrophy (X-ALD) is a common peroxisomal disorder caused by ABCD1 gene mutations, leading to very long-chain fatty acid accumulation. This review covers X-ALD
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Context:
- X-linked adrenoleukodystrophy (X-ALD) is the most prevalent peroxisomal disorder.
- Characterized by impaired beta-oxidation and accumulation of very long-chain fatty acids (VLCFAs).
- Associated with mutations in the ABCD1 gene.
Purpose:
- To discuss the clinical manifestations of X-ALD.
- To outline diagnostic procedures for X-ALD.
- To review current and emerging treatment options for X-ALD.
Summary:
- Reviews the pathophysiology of X-ALD, focusing on defective peroxisomal beta-oxidation and subsequent VLCFA buildup.
- Details the genetic basis involving ABCD1 gene mutations.
- Covers the spectrum of clinical presentations and diagnostic methods.
Impact:
- Provides a comprehensive overview for clinicians and researchers.
- Highlights the importance of early diagnosis and management of X-ALD.
- Informs therapeutic strategies for this genetic metabolic disorder.
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