ABSTRACT
Lipid storage diseases are a group of metabolic disorders characterized by an enzyme defect leading to progressive accumulation of heterogeneous undigested lipid substance in the lysosomal organelles, causing variety of diseases according to defective gene and accumulated lipid in the different organ1 s cells.This study was based on enzymatic assays were performed for 409 affected members of two hundred and thirty-three families whom we had screened for metabolic disorders from August 1990 to November 2006. For ruling in/out of the suspected disorder, assay of urine, blood and skin fibroblasts were performed in Erasmus University. The necessary samples were taken according to the established protocols. Among the received 409 samples, 158 samples were suspected to have some forms of lipid storage diseases, 48 did not have the suspected enzyme defect and no diagnosis was established. In 84 cases, a diagnosis was reached with the first enzyme assay. In the remaining 25 cases, the first diagnosis which was metachromatic leukodystrophy in the majority of cases was negative and the second enzyme assay for another disorder after further workup proved to be positive and diagnostic. After enzyme assay 114 individuals were shown to have some lipid storage disorder.The highest number of cases studied is the Neimann-Pick cases with 22 members from 14 families, followed by 17 members from 16 families with Metachromatic leukodystrophy, 14 cases from 11 families referred for Gaucher and 10 families with 10 affected members with Tay Sachs. In our experience, emphasis on clinical workup prior to testing can cut down unnecessary expenses, time and effort