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

Autor:	Grković S; Institut za zdravstvenu zastitu majke i deteta Srbije Dr. Vukan Cupid, Beograd. metlab@sezampro.yu, Dordević M, Nikolić R, Zivancević-Simonović S, Puzigaća Z
Jazyk:	srbština
Zdroj:	Medicinski pregled [Med Pregl] 2007 Jul-Aug; Vol. 60 (7-8), pp. 401-3.
Abstrakt:	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.
Databáze:	MEDLINE
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