LAUSR

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disease, caused by mutations in ABCD1, a gene located on the X chromosome that codes for adrenoleukodystrophy protein (ALDP) [1], which belongs to the adenosine triphosphate (ATP) binding cassette (ABC) transporter protein superfamily [2] and is connected with very long chain fatty acids (VLCFAs) beta oxidation in peroxisomes. As a consequence, a slight dysfunction of ALDP results in the accumulation of very long chain fatty acids (VLCFAs) in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes [3]. X-ALD can present in a wide range of phenotypic expression. The total frequency of mutant carriers for hemizygotes plus heterozygotes is estimated to be 1:16,800 [4]. The different presentations are complicated by the pattern of X-linked recessive inheritance. The most frequent clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and childhood cerebral ALD (CCALD), accounting for 70–80% [5]. Although the detection of an ABCD1mutation identifies an individual who is affected with a form of X-ALD, there is no genotype-phenotype correlation [6]. The clinical presentation of X-ALD can vary greatly, making diagnosis difficult. Therefore, the mutation analysis of ABCD1 is the most accurate approach to confirm the disease at present [7]. In the present study, we report a Chinese patient with X-ALD derived from a novel missense point mutation that caused by cDNA nucleotide change 1017 G >C in exon 2 (c.1017G >C). Materials and methods