The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
A Female Case of the Lesch-Nyhan Syndrome
KIMIKO HARA, SHIGEO KASHIWAMATA, NOBUAKI OGASAWARA, HIDETSUNE OHISHI, REISUKE NATSUME, TSUTOMU YAMANAKA, SUSUMU HAKAMADA, SHUJI MIYAZAKI, KAZUYOSHI WATANABE
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Keywords: Lesch-Nyhan syndrome, hypoxanthine-guanine phosphoribosyltransferase (HGPRT), regulator gene, female, uric acid
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1982 Volume 137 Issue 3 Pages 275-282

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Abstract

HARA, K., KASHIWAMATA, S., OGASAWARA, N., OHISHI, H., NATSUME, R., YAMANAKA, T., HAKAMADA, S., MIYAZAKI, S. and WATANABE, K. A Female Case of the Lesch-Nyhan Syndrome. Tohoku J. exp. Med., 1982, 137 (3), 275-282-The classical Lesch-Nyhan syndrome has the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity as the result of mutation in the structural gene for the enzyme located on the X chromosome and is believed to be of X-linked recessive or sex-limited mode of inheritance. This is the first report of a girl who showed typical clinical features and biochemical characteristics of the classical Lesch-Nyhan syndrome. Her mother was not a heterozygote for a deficiency of HGPRT. Possible genetic mechanisms responsible for this case were discussed.

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