Shah S N, Johnson R C, Stone R K, Mahon-Haft H
Biol Psychiatry. 1985 Jan;20(1):50-7. doi: 10.1016/0006-3223(85)90134-9.
Metachromatic leukodystrophy (MLD) is a disease caused by a deficiency of the enzyme sulfatide sulfatase, also known as arylsulfatase A (ASA). We compared the activity of this enzyme in adult psychiatric patients and normal volunteers using nitrocatechol sulfate (ASA-NCS) and cerebroside sulfate (ASA-CS) as substrates. Our results showed that ASA-NCS activity in urine and leukocytes was significantly lower in psychiatric than in normal individuals, but that there were no differences between these two groups in the sulfatide excretion in urine or the ASA-CS activity in leukocytes. There was no correlation between enzyme activity in urine and in leukocytes, indicating that activity in urine does not truly reflect the levels of the enzyme in tissues. The correlation between ASA-NCS and ASA-CS activity in leukocytes was poor (0.51 for psychiatric patients and 0.59 for normals), suggesting that for a valid measure of the enzyme activity the assays should be carried out with CS as substrate. Results of our study also indicate that in 39 of the 145 psychiatric patients studied, the ASA-CS activity in leukocyte was less than 4 nmoles/mg protein/hr, which is below 50% of the normal means, whereas only one of the 30 normal subjects had a value this low. The presence of low levels of ASA-CS activity in a significantly large number of adult patients with varying psychiatric manifestations suggests that such patients may be asymptomatic carriers of the sulfatidase defect (heterozygotes for MLD), and that behavioral and functional disturbances in these patients may at least in part be related to sulfatidase deficiency. The significance of the ASA-NCS abnormality (reduction) in psychiatric patients is unclear.
异染性脑白质营养不良（MLD）是一种由硫脂硫酸酯酶缺乏引起的疾病，该酶也称为芳基硫酸酯酶A（ASA）。我们以硫酸硝基邻苯二酚（ASA-NCS）和硫酸脑苷脂（ASA-CS）为底物，比较了成年精神科患者和正常志愿者中这种酶的活性。我们的结果表明，精神科患者尿液和白细胞中的ASA-NCS活性显著低于正常个体，但两组在尿中硫脂排泄或白细胞中ASA-CS活性方面没有差异。尿液和白细胞中的酶活性之间没有相关性，这表明尿液中的活性并不能真正反映组织中酶的水平。白细胞中ASA-NCS和ASA-CS活性之间的相关性较差（精神科患者为0.51，正常人为0.59），这表明为了有效测量酶活性，应使用CS作为底物进行测定。我们的研究结果还表明，在145名接受研究的精神科患者中，有39名患者白细胞中的ASA-CS活性低于4纳摩尔/毫克蛋白质/小时，低于正常平均值的50%，而30名正常受试者中只有1人的值如此之低。大量有不同精神症状的成年患者中存在低水平的ASA-CS活性，这表明这些患者可能是硫酸酯酶缺陷的无症状携带者（MLD的杂合子），并且这些患者的行为和功能障碍可能至少部分与硫酸酯酶缺乏有关。精神科患者中ASA-NCS异常（降低）的意义尚不清楚。
