Tag Archives: β-Hexosaminidase A

Tay Sachs in South Italy

Tay Sachs disease (TSD) is an autosomal recessive neurological disorder characterized by significant deficiency of lysosomal enzyme β-Hexosaminidase A and subsequent intralysosomal accumulation of GM2 ganglioside. The classical TSD occurs in early infancy with psychomotor retardation, blindness,