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

Orphanet Journal of Rare Diseases

Bwee Tien Poll-The²  Patrick Aubourg³  Ronald JA Wanders¹  Björn M van Geel⁴  Marianne de Visser⁵  Stephan Kemp²  Marc Engelen² 

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

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

[3]INSERM UMR745, University Paris-Descartes, Paris, France

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

[5]Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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

Others  :  864283
DOI  :  10.1186/1750-1172-7-51

 received in 2012-03-13, accepted in 2012-06-11,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Engelen et al.; licensee BioMed Central Ltd.

【 图 表 】

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