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Vol. 10 No. 11 (2023)
International Multidisciplinary Journal for Research & Development

Articles

CAUSES OF PURINE AND PYRIMIDINE METABOLISM DISORDERS

Published 2023-11-21

  • Mamajonov Asilbek Akbarjon o’g’li, Juraeva Dilafruz Akbarovna

Mamajonov Asilbek Akbarjon o’g’li, Juraeva Dilafruz Akbarovna
Andijan State Medical Institute, Uzbekistan

Abstract

Purines and pyrimidines are essential building blocks of DNA, RNA, and compounds involved in cellular energy transfer and biosynthetic reactions (e.g., adenosine triphosphate, ATP). Purine and pyrimidine disorders have a wide spectrum of signs and symptoms, including autism, kidney stones, susceptibility to infections, and severe intellectual disability. Symptoms may present from infancy to old age. Most metabolic screening tests do not detect disorders of purine or pyrimidine metabolism; hence, they must be specifically sought out by having specialized analyses performed. Adenosine deaminase (ADA) deficiency results in the accumulation of 2′-deoxyadenosine in the circulating white blood cells (lymphocytes). This, in turn, causes a decreased number of lymphocytes and a drastically increased susceptibility to infection (severe combined immunodeficiency, SCID). Bone marrow transplantation may be curative, and gene therapy has shown promise, but enzyme replacement therapy is the standard treatment.

Keywords

Adenosine,ADA,metabolic syndrome,phosphoribosyltransferase, purine,pyrimidine.

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References

  1. Maksimovna, M. M., Daliyevich, A. Y., Zuxritdinovna, M. M., Mamadjanovna, B. A., & Nozimjon O’g’li, S. S. (2021). Allergy to the Production Dust at Workers of Integrated Cotton Mill. JournalNX, 7(07), 52-54.
  2. Nozimjon o’g’li, S. S. (2022). INFORMATION ABOUT THE STRUCTURE OF THE MEMBRANE OF EPITHELIAL TISSUE AND GLANDS. British Journal of Global Ecology and Sustainable Development, 10, 65-69.’
  3. Maxmudovich, A. X., Raximberdiyevich, R. R., & Nozimjon o’g’li, S. S. (2021). Oshqozon Ichak Traktidagi Immunitet Tizimi. TA'LIM VA RIVOJLANISH TAHLILI ONLAYN ILMIY JURNALI, 1(5), 83-92.
  4. Shoxabbos, S., & Mahramovich, K. S. M. K. S. (2023). CAUSES OF THE ORIGIN OF CARDIOVASCULAR DISEASES AND THEIR PROTECTION. IQRO JURNALI, 1-6.
  5. CHULIEVA, V. E. (2021). THE PRINCIPLES OF COMMONALITY AND SPECIFICITY IN THE PHILOSOPHICAL TEACHINGS OF BAHA UD-DIN WALAD AND JALAL AD-DIN RUMI. THEORETICAL & APPLIED SCIENCE Учредители: Теоретическая и прикладная наука, (9), 566-573.
  6. Mavlonovna, R. D. Factors That Increase the Activity of Women and Girls in Socio-political Processes at a New Stage of Development of Uzbekistan. JournalNX, 7(07), 61-66.
  7. Mavlonovna, R. D. Participation of Uzbek Women in Socio-economical and Spiritual Life of the Country (on the Examples of Bukhara and Navoi Regions). International Journal on Integrated Education, 4(6), 16-21.
  8. Mavlonovna, R. D., & Akbarovna, M. V. (2021, July). PROVISION OF FAMILY STABILITY AS A PRIORITY OF STATE POLICY. In Archive of Conferences (pp. 34-39).
  9. Khairullayevich, S. H. Development of gymnastics in Uzbekistan and attention to gymnastics. International scientific-educational electronic magazine" OBRAZOVANIE I NAUKA, 21.
  10. Sayfiyev, H., & Saidova, M. (2023). EFFECTS OF GYMNASTICS ON FUNDAMENTAL MOTOR SKILLS (FMS), POSTURAL (BALANCE) CONTROL, AND SELF-PERCEPTION DURING GYMNASTICS TRAINING. Modern Science and Research, 2(9), 204-210.
  11. Saidova, M., & Sayfiyev, H. (2023). CONTENT-IMPORTANCE AND PRINCIPLES OF PHYSICAL EDUCATION CLASSES. Modern Science and Research, 2(9), 192-199.
  12. Ayubovna, S. M., & Komiljonova, K. I. (2022). Features of Application of Sports Games in Preschool Children. International Journal of Culture and Modernity, 16, 17-23.
  13. Saidova, M. (2023). THE CONCEPT OF PHYSICAL QUALITIES. Modern Science and Research, 2(10), 251-254.

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