[Very long chain fatty acids in the pathogenesis, prenatal and postnatal diagnosis of X-linked adrenoleukodystrophy]

Abstract

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of peroxisomal metabolism, biochemically characterized by accumulation of saturated very long chain fatty acids. DIAGNOSIS OF X-ADRENOLEUKODYSTROPHY: The biochemical diagnosis of X-linked adrenoleukodystrophy is done by gas-chromatographic analysis of plasma very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, adrenocortical insufficiency and it may play a role in the pathogenesis of the brain inflammatory response.

Genetic counseling and prenatal diagnosis: Detection of familial index cases is important for diagnosis of further cases of X-ALD, treatment of asynmptomatic or barely symptomatic cases to avoid or delay symptom development of heterozygotes, and for providing genetic counseling and prenatal diagnosis in high risk persons.

Conclusion: Retroviral mediated gene transfer corrects VLCFA metabolism in several months in cultured skin fibroblasts obtained from patients with X-ALD. Therefore, there is a hope that in the near future gene therapy may become available for those affected by this severe and potentially lethal disease.