FAMILY WITH COMBINED FARBER AND SANDHOFF, ISOLATED SANDHOFF AND ISOLATED FETAL FARBER-DISEASE - POSTNATAL EXCLUSION AND PRENATAL-DIAGNOSIS OF FARBER-DISEASE USING LIPID LOADING TESTS ON INTACT CULTURED-CELLS

An earlier described pa tient with combined sphingolipidoses, Farber a nd Sandhoff disease, had two healthy older brothers and two further si bs, one with Sandhoff disease and one (a fetus) with Farber disease, s howing segregation of the respective genes. The prenatal diagnosis in the latter was performed using lipid (sphingomyelin and glucosylcerami de) loading tests on the cultured amniotic fluid cells. After 1-3 days of incubation the cells' lipid extract revealed radioactive ceramide to be released and highly accumulated. The deficiency in acid ceramida se was known from the patient with the combined diseases. Confirmation of the prenatal Farber diagnosis was done by similar loading tests on the fetal fibroblasts and by analysis of liver lipids of the less tha n 18-week-old fetus. Conclusion This is the first report on the use of lipid loading tests on intact cultured cells for prenatal diagnosis o f Farber disease. The post,natal diagnosis of Farber disease can also be readily made using those tests, as was shown in four further cases.