van Diggelen O P, von Koskull H, Ammälä P, Vredeveldt G T, Janse H C, Kleijer W J
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Prenat Diagn. 1988 Nov;8(9):661-3. doi: 10.1002/pd.1970080905.
Wolman's disease was diagnosed in the first trimester of pregnancy by the direct demonstration of acid lipase deficiency in chorionic villi. The diagnosis was confirmed by studies on cultured chorionic villus cells and fetal skin fibroblasts. Acid lipase activity was assayed with both 4-methylumbelliferyl-palmitate and radiolabelled cholesterol oleate as substrates. The higher specificity of the enzyme for the latter, natural, substrate makes it superior in prenatal diagnosis.
妊娠早期通过直接证实绒毛膜绒毛中酸性脂肪酶缺乏诊断出沃尔曼病。通过对培养的绒毛膜绒毛细胞和胎儿皮肤成纤维细胞的研究证实了诊断。以4-甲基伞形酮棕榈酸酯和放射性标记的胆固醇油酸酯为底物测定酸性脂肪酶活性。该酶对后一种天然底物具有更高的特异性，使其在产前诊断中更具优势。
