What is another word for Hexosaminidase A and B Deficiency Disease?
Pronunciation: [hˈɛksəsˌamɪnˌɪde͡ɪs ɐ and bˈiː dɪfˈɪʃənsi dɪzˈiːz] (IPA)
Hexosaminidase A and B deficiency disease, also known as GM2 gangliosidosis, is a rare genetic disorder that affects the nervous system. This inherited condition occurs due to a deficiency of enzymes called hexosaminidase A and B, which are essential for breaking down complex molecules in the body. As a result, harmful substances build up in the brain and spinal cord, leading to progressive neurological deterioration. There are several synonyms for this disease, including Tay-Sachs disease, Sandhoff disease, and GM2 gangliosidosis variant 0. While the names may differ, the impact remains the same - affecting both the physical and cognitive abilities of those affected by this debilitating condition.