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Lesch-Nyhan syndrome 

Lesch-Nyhan syndrome
Chapter:
Lesch-Nyhan syndrome
Author(s):

Ivan Donaldson

, C. David Marsden

, Susanne A. Schneider

, and Kailash P. Bhatia

DOI:
10.1093/med/9780192619112.003.1025
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date: 03 June 2020

This disorder was first clearly defined by Lesch and Nyhan in 1964 when they reported two brothers with ‘hyperuricaemia, mental retardation, choreoathetosis and destructive biting’. Similar patients had been reported earlier by Catel and Schmidt (1959) and Riley (1960), but they had not investigated the biochemical abnormality in detail. A number of further reports followed and in 1967 Seegmiller et al. showed that the underlying biochemical defect was due to impaired activity of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT or HGPRT). Subsequently it was shown that HPRT was encoded by a gene on the X chromosome at position Xq26-27 (Pai et al. 1980) and the nucleotide sequence of this region was reported (Jolly et al. 1983). The observations made in these initial descriptions have been considerably expanded but not significantly altered.

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