Sandhoff disease is related to this disease, and the metabolism of 4-methyl-lumbelli-ferone is used in the biochemical test which detects this disease.
Sandhoff disease is related to this disease, and the metabolism of 4-methyl-lumbelli-ferone is used in the biochemical test which detects this disease. It is caused by a mutation in the HEXA gene, which leads to a deficiency of hexosaminidase A. Compounds made of sialic acid and glycosphingolipids called gangliosides are not metabolized in this condition, which results in the "cherry-red" spot that can be seen on the retina of patients with this condition. For 10 points, name this fatal genetic disorder that mostly affects infants and is especially common among Ashkenazi Jews.
Sandhoff disease is related to this disease, and the metabolism of 4-methyl-lumbelli-ferone is used in the biochemical test which detects this disease.
Tay-Sachs disease