Morphological, biochemical and molecular biology approaches for the diagnosis of lysosomal storage diseases.

Abstract

Lysosomal storage diseases are a group of inherited and acquired disorders with different clinical manifestations, affecting mammals 30,43,49,97 and birds. 16,36,53,59 Depending on the mutation site and/or defective gene, they may be presented as an infantile or an adult form. They may be manifested as a neurological disorder, hepatosplenomegaly, cloudy corneas or by skeletal abnormalities and as a combination of the above. Often, their clinical presentations resemble many other nonlysosomal disorders. It is very likely that more lysosomal disorders occur in animals than are currently recognized. The purpose of this paper is to review morphological, biochemical, and molecular biology approaches for the diagnosis of lysosomal storage diseases. The lysosome is the primary disposal and recycling center of cells. It degrades cellular and extracellular macromolecules, providing amino acids, fatty acids, nucleic acids, and carbohydrate residues for reutilization in cellular synthesis. Lysosomal storage diseases are characterized primarily by deficient activity of a lysosomal hydrolase,