Question

identify a genetic disease that results from an anomaly associated with the biosynthesis of amino acids, nucleotides or related molecules. Provide the name of the disease, its exact biochemical effect on the pathway(s), the resultant physiological and symptomatic aspects, and how it might be treated. Provide reference.

Answer 1

Sickle cell Disease

It is a heriditary disorder. It is due to substitution of Glutamic acid with Valine at position 6. Due to this, the Hemoglobin molecule oxygen carrying capacity changes and the molecules aggregate to form fibrous precipitates. THe elasticity of RBC changes and tend to aggregate at capillaries.THe aggregated cells lyse and results in anemia.THe symptoms include anemia, swelling of hands and feet,chest pain etc.

THere is no permanant cure to this disorder. Glutamate supplements, blood transfusion, folic acid supplements are some of the treatment choices.