Barboura Ilhem, Chebel Saber, Ferchichi Salima, Ben Mansour Rachida, Frih-Ayed Mahbouba, Miled Abdelhedi
Laboratoire de biochimie, CHU Farhat Hached-Sousse, Tunisie.
Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):465-9. doi: 10.1684/abc.2011.0599.
We recruited a 44-year-old woman who had a dementia with behavioral and personality troubles. A biochemical analysis which includes a qualitative study of urinary sulfatides by thin layer chromatography followed by the determination of the enzymatic activity of arylsulfatase A (ARSA) was performed. The Molecular analysis concerned the research of the most frequent mutations (459 +1 G> A, p.P426L, p.I179S). The profile that has revealed the presence of 3-O-sulfogalactosylceramide fraction was in favor of metachromatic leukodystrophy. The activity of arylsulfatase A was collapsed in the index case which confirmed the phenotype of the adult form of the diagnosed MLD. The molecular study showed the presence of the mutation p.I179S in the homozygous state in the index case.
我们招募了一名44岁患有痴呆症且伴有行为和人格问题的女性。进行了一项生化分析，包括通过薄层色谱法对尿硫脂进行定性研究，随后测定芳基硫酸酯酶A（ARSA）的酶活性。分子分析涉及研究最常见的突变（459 +1 G> A、p.P426L、p.I179S）。显示存在3-O-磺基半乳糖基神经酰胺部分的图谱支持异染性脑白质营养不良。索引病例中芳基硫酸酯酶A的活性丧失，这证实了诊断为MLD的成人形式的表型。分子研究表明索引病例中存在纯合状态的p.I179S突变。
