title: [Very long chain fatty acids in the pathogenesis, prenatal and postnatal diagnosis of X-linked adrenoleukodystrophy].
abstract: 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.
authors.affiliation: Institut za zdravstvenu zastitu majke i deteta Srbije Dr. Vukan Cupid, Beograd. metlab@sezampro.yu
authors.forename: Sanja
authors.initials: S
authors.lastname: Grković
authors.forename: Maja
authors.initials: M
authors.lastname: Dordević
authors.forename: Rajko
authors.initials: R
authors.lastname: Nikolić
authors.forename: Snezana
authors.initials: S
authors.lastname: Zivancević-Simonović
authors.forename: Zarko
authors.initials: Z
authors.lastname: Puzigaća
mesh_terms: 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
chemical_list: D005227:Fatty Acids