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Lesch Nyhan Syndrome

Abstract

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NORD is very grateful to William L. Nyhan, MD, PhD, Distinguished Professor, Pediatrics, School of Medicine, University of California San Diego, for assistance in the preparation of this report.

Synonyms of Lesch Nyhan Syndrome

  • HGPRT deficiency
  • HPRT deficiency
  • hypoxanthine-guanine phosphoribosyl transferase deficiency
  • Lesch-Nyhan disease

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purines are nitrogen-containing compounds found in many foods (e.g., organ meats, poultry, and legumes). In the absence of HPRT, the purines hypoxanthine and guanine are not built into nucleotides. Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints and kidneys. Lesch-Nyhan syndrome is inherited as an X-linked recessive genetic disorder that, with rare female exceptions, most often affects males.

The symptoms of Lesch-Nyhan syndrome include impaired kidney function, acute gouty arthritis, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms include involuntary muscle movements, and neurological impairment.

Lesch Nyhan Syndrome Resources

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