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The Lesch‐Nyhan Syndrome: Report of Three Cases
Author(s) -
Wood Margaret H.,
Fox R. M.,
Vincent Lesley,
Reye Corrle,
O'Sullivan W. J.
Publication year - 1972
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1972.tb03909.x
Subject(s) - lesch–nyhan syndrome , choreoathetosis , hypoxanthine guanine phosphoribosyltransferase , medicine , phosphoribosyltransferase , adenine phosphoribosyltransferase , gout , hypoxanthine , purine metabolism , pediatrics , endocrinology , purine , enzyme , biochemistry , dystonia , biology , psychiatry , mutant , gene
Summary: Three patients with the Lesch‐Nyhan syndrome are described. Two of the patients, who are brothers, presented with characteristic features, including hyperuricaemia, tophi, spasticity, choreoathetosis and self‐mutilation. They both had less than 0.1% of normal levels of the purine salvage enzyme, hypoxanthine‐guanine phosphoribosyltransferase in their erythrocytes. A third patient demonstrated most of the same symptoms but did not self‐mutilate. His erythrocytes were not completely deficient in hypoxanthine‐guanine phosphoribosyltransferase but had approximately 1% of normal levels.