genetic
Lesch–Nyhan syndrome
Lesch–Nyhan (LNS) is a rare inherited disorder caused by a of the hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to in the HPRT1 gene located on the X . LNS affects about 1 in 380,000 live births. The disorder was first recognized and clinically characterized by American medical student Michael Lesch and his mentor, pediatrician William Nyhan, at Johns Hopkins.
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Symptoms — what it feels like
- ·self harm, dystonia, chorea, spasticity, intellectual disability, hyperuricemia
Complications
- ·kidney failure, megaloblastic
Outlook
- ·cite web
- ·url=https://rarediseases.org/rare-diseases/lesch-nyhan-/
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