Tay-Sachs disease results in the deterioration of the nervous system, usually resulting in death before the patient reaches age 5. It is caused by the absence of an enzyme which breaks down lipids ...

In one particular variant of this disease known as mucopolysaccharidosis I (MPS I), a deficiency of the enzyme alpha-L-iduronidase causes a build up of GAGs in tissues and organs, which in turn ...

Carrying Tay-Sachs disease may protect against tuberculosis (TB). In Ashkenazim populations, up to 11 percent of the people are Tay-Sachs carriers. During World War II, TB ran rampant in Eastern ...

Tay-Sachs disease, the more common of the two disorders, typically manifests within the first year of life, progressing quickly and often proving fatal within a few years. In rare cases ...

the role of patient registries and hears a moving story about the rare genetic disorder Tay-Sachs disease. Joining me for this instalment of Health Heroes are Geneviève Bonnélye-Fesnien ...