title: X-linked adreno leukodistrophy: Profiles of very long chain fatty acids in plasma and fibroblasts in eigth Serbian patients.
abstract: X-linked adrenoleukodistrophy is a severe neurodegenerative disorder with impaired very long chain fatty acid metabolism. The disease associated ABCD1 gene encodes a peroxisomal membrane protein which belongs to the superfamily of ATP-binding cassette transporters. We investigated eight male X-ALD patients diagnosed among 142 suspected patients referred for investigation. Plasma levels of very long chain fatty acids were measured at our laboratory using capillary gas chromatography. Eight cases of childhood X-ALD were diagnosed. This is the first published series of Serbian patients with X-ALD. In addition, diagnosis identifies carriers, which could be benefit for genetic counselling and prenatal diagnosis.
authors.affiliation: Department of Pediatrics, Mother and Child Health Care Institute of Serbia, Ljeska 55, 11030 Belgrade, Serbia and Montenegro.
authors.forename: Sanja
authors.initials: S
authors.lastname: Grkovic
authors.forename: Rajko
authors.initials: R
authors.lastname: Nikolic
authors.forename: Maja
authors.initials: M
authors.lastname: Djordjevic
authors.forename: Ljubomir
authors.initials: L
authors.lastname: Stojanov
authors.forename: Snezana
authors.initials: S
authors.lastname: Zivancevic-Simonovic
authors.forename: Gordana
authors.initials: G
authors.lastname: Djordjevic-Denic
authors.forename: Bozica
authors.initials: B
authors.lastname: Kecman
keywords: X-linked adrenoleukodistrophy; capillary gas chromatography; peroxisome disorders; very long chain fatty acids