Ongoing clinical trials are testing for the effectiveness of pyri-meth-amine therapy as a treatment for this disease and the closely related Sandhoff disease.
Ongoing clinical trials are testing for the effectiveness of pyri-meth-amine therapy as a treatment for this disease and the closely related Sandhoff disease. The drug NB-DGJ is being explored as a method to suppress the production of the substance whose buildup causes this disorder. This disease is caused by the mutation of a gene found on the long arm of chromosome 15. The enzyme deficient in this disorder is normally located in the lysosome, where it typically breaks down GM2 molecules. This disorder is caused by a buildup of neural gangliosides. For 10 points, name this disorder which is characterized by the presence of a cherry-red spot in the eye and is most common in Ashkenazi Jews.
Ongoing clinical trials are testing for the effectiveness of pyri-meth-amine therapy as a treatment for this disease and the closely related Sandhoff disease.
Tay-Sachs Disease