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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M., Kemp S., de Visser M., van Geel B., Wanders R., Aubourg P., Poll-The B. Tien
Orphanet Journal of Rare Diseases 7, 1 (2012) 51 - http://www.hal.inserm.fr/inserm-00755770
 (22889154) 
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Marc Engelen () 1, 2, Stephan Kemp2, 3, Marianne de Visser1, Björn van Geel1, 4, Ronald Wanders3, Patrick Aubourg5, 6, Bwee Poll-The1, 2
1 :  Department of Neurology
Academic Medical Center – University of Amsterdam
Meibergdreef 9 - Amsterdam 1105 AZ
Pays-Bas
2 :  Department of Pediatric Neurology
Academic Medical Center – University of Amsterdam – Emma Children's Hospital
Meibergdreef 9 - Amsterdam 1105 AZ
Pays-Bas
3 :  Laboratory Genetic Metabolic Diseases
Academic Medical Center – University of Amsterdam – Department of Clinical Chemistry
Meibergdreef 9 - Amsterdam 1105 AZ
France
4 :  Department of Neurology
Medical Center Alkmaar
Alkmaar
Pays-Bas
5 :  Policlinique Pédiatrique
Hôpital Bicêtre (Le Kremlin-Bicêtre) – Assistance publique - Hôpitaux de Paris (AP-HP)
78, rue du Général Leclerc 94275 Le Kremlin-Bicêtre Cedex
France
6 :  Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux
INSERM : U745 – IFR71 – Université Paris V - Paris Descartes
Fac Sc Pharmaceutiques et Biologiques PARIS V 4 Avenue de L'Observatoire 75270 PARIS CEDEX 06
France
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.
Sciences du Vivant/Génétique
Anglais
1750-1172

Articles dans des revues avec comité de lecture
10.1186/1750-1172-7-51
Orphanet Journal of Rare Diseases
Publisher BioMed Central
ISSN 1750-1172 
internationale
13/08/2012
13/08/2012
7
1
51

X-linked adrenoleukodystrophy – X-ALD – Very long-chain fatty acids – VLCFA – ABCD1 – Peroxisome – Myelin – Leukodystrophy – Demyelinating disorder – Addison's disease – Myelopathy
This work was supported by a grant from the Netherlands Organization for Scientific Research (91786328 to SK).
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