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Hyperuricaemia and choreoathetosis in a child without mental retardation or self‐mutilation — a new HPRT variant
Author(s) -
Gottlieb R. P.,
Koppel M. M.,
Nyhan W. L.,
Bakay B.,
Nissinen E.,
Borden M.,
Page T.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02179135
Subject(s) - choreoathetosis , hypoxanthine guanine phosphoribosyltransferase , hypoxanthine , lesch–nyhan syndrome , uric acid , spasticity , medicine , endocrinology , genetics , psychiatry , biology , enzyme , biochemistry , dystonia , gene , anesthesia , mutant
A thirteen‐year‐old boy is described who had uric acid nephrolithiasis, spasticity and choreoathetosis, but no self‐mutilation or mental retardation. Initial studies suggested the presence of the classic Lesch‐Nyhan enzymatic defect; study of the metabolism of [8‐ 14 C]hypoxanthine and [8‐ 14 C]guanine in intact fibroblasts and careful analysis of the data indicated that this was not the case. This child represents a newly identified variant of the HPRT locus.