Hyperuricaemia and choreoathetosis in a child without mental retardation or self‐mutilation — a new HPRT variant | Zendy

Gottlieb R. P. | Zendy; Koppel M. M. | Zendy; Nyhan W. L. | Zendy; Bakay B. | Zendy; Nissinen E. | Zendy; Borden M. | Zendy; Page T. | Zendy

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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.

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