A Female Case of the Lesch-Nyhan Syndrome

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 phosphorib...

Full description

Saved in:

Bibliographic Details
Published in:	The Tohoku Journal of Experimental Medicine Vol. 137; no. 3; pp. 275 - 282
Main Authors:	HARA, KIMIKO, KASHIWAMATA, SHIGEO, OGASAWARA, NOBUAKI, OHISHI, HIDETSUNE, NATSUME, REISUKE, YAMANAKA, TSUTOMU, HAKAMADA, SUSUMU, MIYAZAKI, SHUJI, WATANABE, KAZUYOSHI
Format:	Journal Article
Language:	English
Published:	Tohoku University Medical Press 01-01-1982
Subjects:	female hypoxanthine-guanine phosphoribosyltransferase (HGPRT) Lesch-Nyhan syndrome regulator gene uric acid
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23
ISSN:	0040-8727 1349-3329
DOI:	10.1620/tjem.137.275