The Molecular Biology of β-Hexosaminidase: Localization of the Proteolytic Processing and Carbohydrate Containing Sites

The lysosomal storage diseases are inherited metabolic disorders characterized by the partial or total loss of the activity of specific lysosomal enzymes. This results in the irreversible accumulation of metabolites in lysosomes, ultimately leading to cell death. Many of these disorders are fatal, but less severe forms impair growth and development, often with neurological damage. The prototype lysosomal storage disease is Tay-Sachs disease, resulting from a defect involving β-hexosaminidase (N-acetylhexosaminidase, EC 3.2.1.52).