Lesch-Nyhan syndrome: investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Lesch-Nyhan syndrome: investigations. Uric acid: the levels are high (hyperuricaemia). Fully referenced neurology checklist.
Blood tests
- Uric acid: the levels are high (hyperuricaemia)
- Blood counts: this may show megaloblastic anaemia
- HGPRT enzyme activity
- Molecular genetic tests
Prenatal diagnosis
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Brain imaging
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