[Expression of lysosomal enzymes in pregnancy]. / Issledovanie ékspressii lizosomnykh fermentov pri beremennosti.

Activities of 6 lysosomal enzymes in leukocytes and 3 enzymes in blood serum were studied in pregnant women. Only activity of beta-D-glucosidase was not altered within all the pregnancy of I-III trimesters, while activity of all the other enzymes studied was distinctly increased to the third trimester. Use of the data obtained in prenatal diagnosis of lysosomal storage diseases is discussed.

First-trimester enzyme exclusion of Farber disease using a micromethod with [3H]ceramide.

Farber disease was diagnosed in a patient with typical features and ceramide accumulation in lipogranulomatous nodules. [3H]Ceramide with high specific activity was prepared and used to confirm diagnosis in the patient after her death and for prenatal studies in this family. A micromethod was developed for ceramidase assay in chorionic villi.