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.

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