Computer Assisted Data Management in the Diagnosis of Lysosomal Storage Diseases

Lysosomal storage diseases consist of over 40 metabolic inherited conditions caused by the interruption of various catabolic pathways, due to specific deficiencies of lysosomal enzymes. Early and accurate diagnosis requires the measurement of lysosomal enzyme activities in peripheral blood leukocytes, plasma or cultured fibroblasts. No specialised laboratory existed in our country until January 1997. Diagnostic tests to confirm the diagnosis of lysosomal storage diseases were standardised in our laboratory. We have measured the activities of up to 18 lysosomal enzymes in plasma and leukocytes from 53 patients referred to our laboratory over the last two years. Higher throughput was achieved by computer analysis of spectrophotometric and fluorometric data, consisting of fast and automatic protein quantification in leukocyte samples and automatic calculation of enzyme activities. These computer programs have significantly reduced the total working time required and minimized the operator intervention.