Tay–Sachs disease

synonym: infantile GM2 gangliosidosis
https://doi.org/10.1351/goldbook.11281

Autosomal recessive inheritance of hexosaminidase A deficiency leading to a lysosomal storage disease characterized by central and peripheral neuronal involvement and early death.

Source:
PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 811 (https://doi.org/10.1515/pac-2015-1202)