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Open Access Highly Accessed Review

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Marc Engelen13*, Stephan Kemp23, Marianne de Visser1, Björn M van Geel14, Ronald JA Wanders2, Patrick Aubourg56 and Bwee Tien Poll-The13

Author Affiliations

1 Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

2 Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

3 Department of Pediatric Neurology/Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

4 Department of Neurology, Medical Center Alkmaar, Alkmaar, The Netherlands

5 Department of Pediatric Neurology, Hospital Kremlin-Bicêtre, Assistance Publique des Hôpitaux de Paris, Paris, France

6 INSERM UMR745, University Paris-Descartes, Paris, France

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Orphanet Journal of Rare Diseases 2012, 7:51  doi:10.1186/1750-1172-7-51

Published: 13 August 2012

Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.

Keywords:
X-linked adrenoleukodystrophy; X-ALD; Very long-chain fatty acids; VLCFA; ABCD1; Peroxisome; Myelin; Leukodystrophy; Demyelinating disorder; Addison’s disease; Myelopathy