Lesch Nyhan syndrome
- HPRT deficiency
- HPRT1 deficiency
- HPRT deficiency, complete
- Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
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I have a friend who is a carrier for Lesch Nyhan syndrome but her partner is normal. However, they are planning to have their first child and they would like to know what the options are to prevent their child from getting the condition. Click here for answer