lysosomal storage diseases

lysosomal storage diseases

A heterogeneous group of diseases with specific lysosomal enzyme defects. Cf Inborn errors of metabolism.

lysosomal storage diseases

Genetic diseases in which defects in lysosomal enzymes result in the accumulation in the lysosomes of unsplit large molecules, such as glycosaminoglycans (mucopolysaccharides) and glycogen, engorging them and distorting other cell contents, affecting their function. These diseases include cystinosis, sialic acid storage disease and glycogen storage disease. They affect many parts of the body.