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


CONCLUSIONS
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.
Grković
Sanja
S
Institut za zdravstvenu zastitu majke i deteta Srbije Dr. Vukan Cupid, Beograd. metlab@sezampro.yu
Dordević
Maja
M
Nikolić
Rajko
R
Zivancević-Simonović
Snezana
S
Puzigaća
Zarko
Z
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D015316:Genetic Therapy; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005227:Fatty Acids