Young E P, Patrick A D
Arch Dis Child. 1970 Oct;45(243):664-8. doi: 10.1136/adc.45.243.664.
Liver, spleen, and leucocytes from patients with acid triglyceride lipase deficiency (Wolman's disease and its clinical variants) were also found to possess greatly reduced activity of an acid esterase acting on fatty acid esters of p-nitrophenol, thereby substantiating the view that a single enzyme is responsible for these different activities. The acid esterase was resistant to the microsomal esterase inhibitor, E600, and showed broad specificity with respect to fatty acid chain length of the p-nitrophenyl esters. Other lysosomal hydrolase activities were increased non-specifically in liver from patients, thus providing further support for the classification of acid lipase deficiency as an inborn lysosomal disease. The highly sensitive leucocyte assay provides a convenient method for the diagnosis of clinical variants of Wolman's disease; it might therefore prove particularly useful in the early detection of affected infants, and also possibly in the differentiation of heterozygotes.
在患有酸性甘油三酯脂肪酶缺乏症（沃尔曼病及其临床变异型）的患者的肝脏、脾脏和白细胞中，还发现一种作用于对硝基苯酚脂肪酸酯的酸性酯酶活性大幅降低，从而证实了一种单一酶负责这些不同活性的观点。该酸性酯酶对微粒体酯酶抑制剂E600具有抗性，并且对硝基苯基酯的脂肪酸链长度具有广泛的特异性。患者肝脏中的其他溶酶体水解酶活性非特异性增加，从而为将酸性脂肪酶缺乏症归类为先天性溶酶体疾病提供了进一步支持。高度敏感的白细胞检测为诊断沃尔曼病的临床变异型提供了一种便捷方法；因此，它可能在受影响婴儿的早期检测中特别有用，也可能在杂合子的鉴别中发挥作用。
