A disease caused by deficiency of specific lysosomal enzymes that normally degrade glycoproteins, glycolipids, or mucopolysaccharides. The substances that cannot be catabolized accumulate in lysosomes. Specific enzymes account for specific storage diseases. Included in this group are Gaucher’s, Hurler’s, Tay-Sachs, Niemann-Pick, Fabry’s, Morquio’s Scheie’s, and Maroteaux-Lamy disease.
Inborn metabolic disorders are a group of conditions, often characterized by the absence of a specific enzyme in the cell’s lysosomes. This deficiency results in an accumulation of unusual substances inside the cells, leading to tissue damage.