Child Neurological Diseases Unit, Faculty of Medicine, Tunis, Tunisia.
J Neurol Sci. 2009 Dec 15;287(1-2):278-80. doi: 10.1016/j.jns.2009.07.023. Epub 2009 Aug 21.
Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). The aim of the present study was to identify the molecular basis of MLD in Tunisian population. Two Tunisian patients with late infantile MLD were studied. Both patients were homozygous for a new missense mutation that causes a substitution of Trp in Gly p.W124G. This is the first mutation of ARSA gene described in Tunisian population.
脑硫脂沉积病（MLD）是一种常染色体隐性、溶酶体贮积病，由芳基硫酸酯酶 A（ARSA）缺乏引起。本研究旨在鉴定突尼斯人群中 MLD 的分子基础。对 2 名晚发性婴儿 MLD 患者进行了研究。两名患者均为导致 Gly p.W124G 处的色氨酸替换的新错义突变的纯合子。这是在突尼斯人群中描述的 ARSA 基因的第一个突变。
