Lysosomal storage disorders (LSD) represent a group of at least 44 distinct genetic disease, each one resulting from a deficiency of a specific enzyme or from protein that are involved in lysosomal biogenesis. Today, with the advent of the new technologies, capabilities to characterise LSDs biochemically and genetically have increased. Contrary to all expectations, the results of the molecular analysis have not always explained the broad clinical heterogeneity of the distinct defects as well as proved very useful to predict the disease severity. However, the molecular analysis makes the diagnosis of carriers and the prenatal tests more reliable. Furthermore, the expression studies of the mutant proteins have improved the knowledge in pathogenesis of the diseases and, sometimes, have provided useful information for therapy establishment. Considering the vast number of mutations for each defect and the accuracy need for the analyses, the cost-benefit analysis requires a careful valuation for each disease. Here we report the results of molecular diagnosis of LSDs selected on the basis of disease frequency, possibility of genotype-phenotype correlation studies and carrier identification.
|Translated title of the contribution||Molecular analysis of lysosomal storage disease|
|Number of pages||9|
|Publication status||Published - 2001|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health