A NOVEL MUTATION OF THE ABCD1 GENE IN SERBIAN X-ADRENOLEUKODYSTROPHY
Grkovic S1*, Nikolic R2, Djordjevic M1, Puzigaca Z2, Vujic D1, Ilic P2
*Corresponding Author: Dr. Sanja Grkovic, Department of Pediatrics, Mother and Child Health Care Institute of Serbia, Ljeska 55, 11030 Belgrade, Serbia; Tel.:+38-1641548175; Fax: +38-113108276; E-mail: metlab@ sezampro.yu
page: 65

Abstract

X-linked adrenoleukodystrophy (XALD), the most common inherited peroxisomal disorder, is characterized by central nervous system demyelination, primary adrenal failure and the systemic accumulation of saturated very long chain fatty acids (VLCFAs). We describe a novel mutation of the ABCD1 gene in a Serbian patient with this disorder. The affected boy developed Addison’s disease and neurological symptoms at 6 years of age and had a bone marrow transplant 2 years later. His plasma level of saturated VLCFAs, ratios of C24:0/C22:0 and C26:0/ C22:0, were all significantly elevated. Direct sequencing of the ABCD1 gene detected the point mutation 1519 (G>A) in exon 6, which changes a glycine at position 507 into serine (G507S). This is the first report of genetically confirmed Xadrenoleukodystrophy in Serbia. Key words: ABCD1 gene, Point mutation, Xlinked adrenoleukodystrophy (XALD), Peroxisome.




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