Grkovic Sanja, Nikolic Rajko, Djordjevic Maja, Stojanov Ljubomir, Zivancevic-Simonovic Snezana, Djordjevic-Denic Gordana, Kecman Bozica
Department of Pediatrics, Mother and Child Health Care Institute of Serbia, Ljeska 55, 11030 Belgrade, Serbia and Montenegro.
Indian J Clin Biochem. 2007 Sep;22(2):118-22. doi: 10.1007/BF02913328.
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.
X连锁肾上腺脑白质营养不良是一种严重的神经退行性疾病，伴有极长链脂肪酸代谢受损。与该疾病相关的ABCD1基因编码一种过氧化物酶体膜蛋白，它属于ATP结合盒转运蛋白超家族。我们对142名转诊接受检查的疑似患者中确诊的8名男性X-ALD患者进行了研究。在我们实验室使用毛细管气相色谱法测量了极长链脂肪酸的血浆水平。确诊了8例儿童X-ALD病例。这是首次发表的塞尔维亚X-ALD患者系列。此外，诊断可识别携带者，这对遗传咨询和产前诊断有益。
