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Mouse models of hypoxanthine phosphoribosyltransferase deficiency
Author(s) -
Williamson D. J.,
Hooper M. L.,
Melton D. W.
Publication year - 1992
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/bf01799622
Subject(s) - choreoathetosis , hypoxanthine guanine phosphoribosyltransferase , lesch–nyhan syndrome , hypoxanthine phosphoribosyltransferase , gout , adenine phosphoribosyltransferase , hypoxanthine , abnormality , medicine , allopurinol , phosphoribosyltransferase , purine metabolism , enzyme deficiency , pathogenesis , enzyme , biology , purine , genetics , endocrinology , biochemistry , psychiatry , gene , dystonia , mutant
Summary Lesch‐Nyhan syndrome is an X‐linked disease caused by the deficiency of hypoxanthine phosphoribosyltransferase, an enzyme involved in the purine salvage pathways. It is characterized by severe gout, choreoathetosis, self‐mutilatory behaviour and mental retardation. The derivation of mice genetically deficient in this enzyme may help to elucidate the pathogenesis of the neurological abnormality where previously models using drug administration to mimic the disorder have had to suffice.