D2I2.
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, William Nyhan, at Johns Hopkins.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·self harm, dystonia, chorea, , intellectual disability,

Complications

  • ·kidney failure,

Outlook

  • ·cite web
  • ·url=https://rarediseases.org/rare-diseases//
Plain-language summary adapted from Wikipedia. Not medical advice.