Enzyme deficiency results in convulsions, autistic behavior, anemia, and severe mental retardation. Excessive enzyme activity causes gout, along with various neurological symptoms, such as deafness. Aside from the treatment of gout, no treatment for the symptoms of these diseases is available at this time. Purine Autism . This almost certainly represents some defect of purine metabolism, although no specific enzyme defect has been identified.
Research is ongoing to identify the defect, and to explore possible therapies.
Often this causes no symptoms at all, and patients are discovered accidentally during some other kind of medical test. In other cases, these compounds accumulate and crystallize in the joints, causing a gout-like condition. No effective treatment is known, though reduction in dietary purines is often helpful. Owing to the importance of purines in metabolism, this research has consistently led to significant advances in other areas. For their pioneering work, these two researchers were awarded the Nobel Prize in 1988.