Purines and pyrimidines play crucial roles in cellular energy systems signaling

Question

Purines and pyrimidines play crucial roles in cellular energy systems signaling and in the production of DNA and RNA. Purines and pyrimidines can either be synthesized de novo or from normal catabolism, via a salvage pathway. Uric acid is the end product of the purine catabolism, and Citric Acid cycle intermediates are the products of pyrimidine catabolism.

question:
* What happens when there are errors in the metabolism of purines and/or pyrimidines?
* How is the body affected?
* What kinds of errors can affect purine and pyrimidine metabolism? How do these errors affect these two processes?



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Explanation / Answer

When there are errors in the metabolism of purines or pyrimidines, these molecules are not synthesized or broken down. Due to these errors, the specific pathway is affected leading to some symptoms and diseases.The symptoms are: Gout Anemia Epilepsy Delay in development Deafness Compulsive self-biting Kidney failure Kidney stones Loss of immunity ----------------------------------- The errors which can occur are deficiency of enzymes caused by mutations in genes. This kind of mutation is usually inherited and passed down to the next generation. The disease which occurs due to errors in purine or pyrimidine metabolism is Lesch Nyhan syndrome. This disease is caused by the deficiency of HGPRT or Hypoxanthine Guanine Phosphoribosyl transferase. This deficiency causes uric acid to accumulate in all body fluids.

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