Physiology and pathophysiology of cell organelles

Abstract

Congenital absence of one or more lysosomal hydrolases results in accumulation of the relevant substrate and development of the so- called lysosomal storage diseases (LSD). Approximately 22 different types of LSD are known, which are divided into three groups according to the chemical nature of the specific substrate: sphingolipidoses, mucopolvsaccharridoses (defective hydrolysis of glycosaminoglycans) and glycoproteinoses. Other lysosomal clinical syndromes may result from defects in the biogenesis of the organelle or abnormalities in transport of metabolites across the lysosomal membrane.