Histochemical detection of the enzyme deficiency in blood films in Wolman's disease.
The clinical diagnosis of Wolman's disease (acid esterase deficiency) can be confirmed by a histochemical staining method using blood films. Acid esterase activity is found normally in lymphocytes, but in Wolman's disease only a very low level of activity can be detected. An intermediate level of activity was demonstrated in heterozygotes. The method may also be applicable in the prenatal detection of the disease.
D004950:Esterases / Q000097:blood*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006579:Heterozygote; D006651:Histocytochemistry; D006801:Humans; D008064:Lipidoses / Q000235:genetics*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008566:Membranes; D008854:Microscopy, Electron; D011247:Pregnancy; D014973:Xanthomatosis / Q000201:enzymology / Q000235:genetics*
D004950:Esterases