Utilizzo dei fibroblasti in coltura nella diagnostica biochimica delle malattie da accumulo lisosomale

Use of cultured fibroblasts for the biochemical diagnosis of lysosomal metabolic diseases. This review delineates the main advantages deriving from the use of cultured fibroblasts for the biochemical diagnosis of metabolic diseases. Fibroblasts can be frozen in liquid nitrogen and successively re-plated and cultured without undergoing metabolic modifications, thus making possible the execution of comparative metabolic studies on viable cells. Furthermore, the use of these cells for the biochemical diagnosis of lysosomal diseases is described and the specific techniques for their recognition, principally using radioactive and/or fluorescent substrates, are summarized.