X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

[adrenomyeloneuropathy]

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 60 years . Mutations in the ABCD 1 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 ELOVL 1 resulting in accumulation of VLCFA in plasma and tissues . While all patients have mutations in the ABCD 1 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 .

Diseases
Validation

Diseases presenting "frequent peroxisomal disease" symptom

adrenomyeloneuropathy

x-linked adrenoleukodystrophy

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