Lesch-Nyhan syndrome: investigations

Evidence-based neurology checklist on lesch-nyhan syndrome: investigations: Blood tests Uric acid: the levels are high (hyperuricaemia) Blood counts: this may show megaloblastic anaemia HGPRT enzyme activity Molecular genetic tests Prenatal diagnosis Brain imaging

Blood tests

  • Uric acid: the levels are high (hyperuricaemia)
  • Blood counts: this may show megaloblastic anaemia
  • HGPRT enzyme activity
  • Molecular genetic tests

Prenatal diagnosis

Brain imaging

References

  1. Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2007; 2:48.

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