Purine Salvage Deficiencies

  • Adenosine deaminase deficiency
    • ADA is required for degradation of adenosine and deoxyadenosine. In ADA deficiency, ↑ dATP → lymphotoxicity.
    • One of the major causes of autosomal recessive SCID.
  • Lesch-Nyhan syndrome
    • Defective purine salvage due to absent HGPRT, which converts hypoxanthine to IMP and guanine to GMP. Results in excess uric acid production and de novo purine synthesis.
    • X-linked recessive.
    • Findings: intellectual disability, self-mutilation, aggression, hyperuricemia (orange “sand” [sodium urate crystals] in diaper), gout, dystonia.
    • Treatment: allopurinol or febuxostat (2nd line).
    • HGPRT:
      • Hyperuricemia
      • Gout
      • Pissed off (aggression, self-mutilation)
      • Retardation (intellectual disability)
      • DysTonia
  • Mutations in PRPP will lead to increased production of purines due to feed-forward activation of the purine synthesis pathway.  As a result, more purine molecules will undergo degradation, resulting in hyperuricemia and an increased risk of gout.

Filipino MD

An independent organization catered to bringing enriching opportunities to doctors, researchers and medical institutions.


You cannot copy the contents of this page.