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Text
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<a href="http://doi.org/10.1016/j.bbadis.2012.03.012" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.bbadis.2012.03.012</a>
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Title
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X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
Publisher
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Biochimica Et Biophysica Acta
Date
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2012
Subject
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Female; Humans; Pregnancy; Mutation; Prenatal Diagnosis; Brain; Animals; Phenotype; Adrenoleukodystrophy; ATP-Binding Cassette Transporters; Fatty Acids
Creator
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Kemp S; Berger J; Aubourg P
Description
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X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane protein. ALDP deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. While all patients have mutations in the ABCD1 gene, there is no general genotype-phenotype correlation. Environmental factors and a multitude of modifying genes appear to determine the clinical manifestation in this monogenetic but multifactorial disease. This review focuses on the clinical, biochemical, genetic and pathophysiological aspects of X-ALD.
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<a href="http://doi.org/10.1016/j.bbadis.2012.03.012" target="_blank" rel="noreferrer">10.1016/j.bbadis.2012.03.012</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2012
Adrenoleukodystrophy
Animals
ATP-Binding Cassette Transporters
Aubourg P
Backlog
Berger J
Biochimica Et Biophysica Acta
Brain
Fatty Acids
Female
Humans
Journal Article
Kemp S
Mutation
Phenotype
Pregnancy
Prenatal Diagnosis