Definitions for lesch-nyhan syndrome
lesch-ny·han syn·drome

WiktionaryRate this definition:0.0 / 0 votes

1. Lesch-Nyhan syndromenoun

   A rare inherited genetic disorder, caused by a deficiency of HGPRT, in which uric acid builds up in all body fluids.

WikidataRate this definition:0.0 / 0 votes

1. Lesch-Nyhan syndrome

   Lesch–Nyhan syndrome, also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase, produced by mutations in the HPRT gene located on X chromosome. LNS affects about one in 380,000 live births. The disorder was first recognized and clinically characterized by medical student Michael Lesch and his mentor, pediatrician Bill Nyhan, who published their findings in 1964. The HGPRT deficiency causes a build-up of uric acid in all body fluids. This results in both hyperuricemia and hyperuricosuria, associated with severe gout and kidney problems. Neurological signs include poor muscle control and moderate mental retardation. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. The etiology of the neurological abnormalities remains unknown. Because a lack of HGPRT causes the body to poorly utilize vitamin B12, some boys may develop megaloblastic anemia.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Lesch-Nyhan Syndrome

   An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)

How to pronounce lesch-nyhan syndrome?

1. Alex

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Numerology

1. Chaldean Numerology

   The numerical value of lesch-nyhan syndrome in Chaldean Numerology is: 4

2. Pythagorean Numerology

   The numerical value of lesch-nyhan syndrome in Pythagorean Numerology is: 6

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Lesch-Nyhan_Syndrome
2. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=lesch-nyhan syndrome