Abstract
Two pregnancies at risk for Wolman's disease (WD) were monitored by quantitative assays and electrophoresis of lysosomal acid lipase (LAL) in cultured amniotic fluid cells. Cells from case I had less than 5% of control LAL activity with 14C-triolein as substrate, but showed 30-35% of control LAL activity when measured with either 4-methylumbelliferyl oleate or p-nitrophenyl myristate as substrate. Electrophoresis of cells from case I revealed the absence of band A of LAL. After termination of the pregnancy, results of the analysis of fetal tissues were consistent with the diagnosis of WD. Cells from case II had normal levels of LAL activity with all substrates tested and revealed a normal electrophoretic pattern of LAL. These results suggest that the use of synthetic substrates to quantitate LAL in the cultured amniotic fluid cells from a WD fetus may be misleading. On the other hand, electrophoresis of LAL from these cells readily reveals the deficiency of the A band and supports the diagnosis made using radiolabelled “natural” substrates. We recommend, therefore, that these two procedures, radioactive assay and electrophoresis, be employed for the prenatal diagnosis of WD. (Supported in part by NIH grant HL 18723, NF grant 6-80 and AHA grant 76-768).
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Coates, P., Cortner, J. 517 ACID LIPASE: IN CULTURED AMNIOTIC FLUID CELLS. Pediatr Res 12 (Suppl 4), 450 (1978). https://doi.org/10.1203/00006450-197804001-00522
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DOI: https://doi.org/10.1203/00006450-197804001-00522
