First trimester diagnosis of Wolman's disease |
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| Authors: | Dr O P Van Diggelen H Von Koskull P Ämmälä G T M Vredeveldt H C Janse W J Kleijer |
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| Institution: | 1. Laboratory of Prenatal Genetics, Helsinki University Central Hospital, 00290 Helsinki, Finland;2. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands |
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| Abstract: | 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. |
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| Keywords: | Wolman's disease Chorionic villi Prenatal diagnosis Acid lipase |
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