<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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 X-adrenoleukodystrophy in Serbia.</p></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 X-adrenoleukodystrophy in Serbia.

A Novel Mutation of the ABCD1 Gene in Serbian X-Adrenoleukodystrophy

Department of Pediatrics, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia

Department of Gynecology, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia

Balkan Journal of Medical Genetics

{"article-title":"A Novel Mutation of the ABCD1 Gene in Serbian X-Adrenoleukodystrophy"}

X-linked adrenoleukodystrophy (XALD), the most common inherited peroxisomal disorder, is characterized by central nervous system demyelination, primary adrenal...

A Novel Mutation of the ABCD1 Gene in Serbian X-Adrenoleukodystrophy

Online veröffentlicht: 12. Nov. 2008

Seitenbereich: 65 - 68

DOI: https://doi.org/10.2478/v10034-008-0020-2

Schlüsselwörter
ABCD1 gene, Point mutation, X-linked adrenoleukodystrophy (XALD), Peroxisome

This content is open access.

A Novel Mutation of the ABCD1 Gene in Serbian X-Adrenoleukodystrophy

Online veröffentlicht: 12. Nov. 2008

Seitenbereich: 65 - 68

DOI: https://doi.org/10.2478/v10034-008-0020-2

SchlüsselwörterABCD1 gene, Point mutation, X-linked adrenoleukodystrophy (XALD), Peroxisome

This content is open access.

Schlüsselwörter
ABCD1 gene, Point mutation, X-linked adrenoleukodystrophy (XALD), Peroxisome