Sangiorgi S, Ferlini A, Zanetti A, Mochi M
Clinica Neurologica, Università di Bologna, Italy.
Am J Med Genet. 1991 Sep 1;40(3):365-9. doi: 10.1002/ajmg.1320400324.
A sample of 140 children exhibiting neurologic disturbances (93 suffering from epilepsy and 47 with delayed psychomotor development or mental retardation) was tested for the activity of some lysosomal enzymes. A partial deficiency of arylsulfatase A (ASA) in leucocytes (activities lower than 60% of the control average) was detected in 36 patients (25.7%), whereas few ASA-deficient individuals (1.4%) were found in the control sample of 71 healthy children. Therefore, the frequency of ASA deficiency is abnormally high in our sample of pediatric patients. ASA activity levels were also assayed on fibroblasts from 12 of the 36 ASA-deficient patients; the mean activity in these cells was 20% of the control average. Excretion of urinary sulfatides was not increased in the tested ASA-deficient patients (10/36). Clinical symptoms of these ASA-deficient patients bore no resemblance to classical metachromatic leucodystrophy (MLD), but resemble literature cases labeled as atypical MLD or diagnostic puzzles. This result suggests that reduced ASA activity might be associated with an increased risk of developing neurologic or neuropsychiatric disturbances in children.
对140名有神经功能障碍的儿童（93名患有癫痫，47名有精神运动发育迟缓或智力障碍）样本进行了一些溶酶体酶活性检测。在36名患者（25.7%）中检测到白细胞中芳基硫酸酯酶A（ASA）部分缺乏（活性低于对照平均值的60%），而在71名健康儿童的对照样本中仅发现少数ASA缺乏个体（1.4%）。因此，在我们的儿科患者样本中，ASA缺乏的频率异常高。还对36名ASA缺乏患者中的12名患者的成纤维细胞进行了ASA活性水平检测；这些细胞中的平均活性为对照平均值的20%。在检测的ASA缺乏患者（10/36）中，尿硫脂排泄并未增加。这些ASA缺乏患者的临床症状与经典的异染性脑白质营养不良（MLD）不同，但类似于文献中标记为非典型MLD或诊断难题的病例。这一结果表明，ASA活性降低可能与儿童发生神经或神经精神障碍的风险增加有关。
