[Enzyme diagnostics in lysosomal diseases with emphasis on sphingolipidoses]

Abstract

The authors describe the conditions and results of the enzymatic diagnosis in various sphingolipidoses, based on their personal experience. A precise diagnosis can be presently made on white blood cells, cultured fibroblasts or amniotic cells, and in some cases on serum or urine. In most cases the use of artificial substrates allows a relatively simple diagnosis. The methods are quantitative or qualitative (especially cellulose acetate electrophoresis, of which a few pictures are shown). The results are particularly clear in Tay-Sachs disease and its variants. Despite the fatal prognosis of most sphingolipidoses it is important to ensure a precise and precocious diagnosis. This is of prime value when a prenatal detection of the disease is considered in case of a future pregnancy.