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 [Terms] [Paper]
Citation: 'Tay–Sachs disease' in IUPAC Compendium of Chemical Terminology, 5th ed. International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. https://doi.org/10.1351/goldbook.11281 RIS BibTex EndNote
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