Prenatal diagnosis of Wolman disease

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Abstract
Two pregnancies at risk for Wolman disease were monitored by assay and electrophoresis of acid lipase in cultured amniotic‐fluid cells. Cells from patient 1 had 5% of control levels of acid lipase, using 14C‐triolein as substrate; however, when artificial substrates (esters of 4‐methylumbelliferone and p‐nitrophenol) were used to measure acid lipase, these cells had 30% of control levels. Electrophoresis of cell extracts revealed the absence of the A form of acid lipase, consistent with the diagnosis of Wolman disease. Analysis of fetal tissues following prostaglandin termination of this pregnancy confirmed the diagnosis. Assay of fetal‐skin fibroblasts with 14C‐triolein, as well as with artificial substrates, showed marked deficiency of acid lipase activity. Electrophoresis of fetal‐tissue extracts also demonstrated the absence of the A form of acid lipase. Amniotic‐fluid cells from patient 2 showed normal levels of acid lipase with all substrates tested; the electrophoretic pattern of acid lipase was normal. The results suggest that the prenatal diagnosis of Wolman disease be made using the radioassay of acid lipase and/or electrophoresis.

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