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肾上腺脑白质营养不良是遗传性代谢疾病 ,由于基因突变 ,极长链饱和脂肪酸在患者血浆和组织中累积 ,引起脑白质脱髓鞘改变和肾上腺功能不全。对血浆、培养皮肤成纤维细胞极长链饱和脂肪酸的测定是诊断本病的主要生化指标 ,基因突变分析能准确发现发病家系的基因突变类型和突变位点 ,应用免疫学方法检测突变基因所表达的蛋白 ,联合极长链饱和脂肪酸测定、基因突变分析两种方法 ,能提高肾上腺脑白质营养不良的确诊率。
Adrenal leukodystrophy is a hereditary metabolic disease that, due to genetic mutations, accumulates extremely long chain saturated fatty acids in the plasma and tissues of patients, causing demyelination of the white matter and adrenal insufficiency. In plasma, the measurement of extremely long-chain saturated fatty acids in cultured skin fibroblasts is the main biochemical indicator for the diagnosis of this disease. Gene mutation analysis can accurately identify the types and mutation sites of gene mutations in the affected pedigrees. Immunological methods are used to detect the expression of the mutant genes Of the protein, combined with very long chain saturated fatty acid determination, gene mutation analysis of two methods to improve the diagnosis of adrenoleukodystrophy rate.