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The pathogenesis of the Lesch‐Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase
Author(s) -
Harkness R. A.,
McCreanor G. M.,
Greenwood R.
Publication year - 1991
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/bf01800592
Subject(s) - hypoxanthine , hypoxanthine guanine phosphoribosyltransferase , lesch–nyhan syndrome , hypoxanthine phosphoribosyltransferase , phosphoribosyltransferase , xanthine , purine , biochemistry , chemistry , endocrinology , biology , medicine , enzyme , gene , mutant
Summary In order to explain features of severe hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, the Lesch‐Nyhan syndrome, a continuous supply of substrate, hypoxanthine, for the enzyme must be generated. This supply must be increased in association with increased ATP turnover. We have shown that ATP turnover continuously supplies hypoxanthine for recycling by the enzyme HPRT and that this supply increases curvilinearly with increasing ATP turnover. The effects of increasing exercise on ATP turnover were examined using a Latin square experimental design. The outputs of hypoxanthine, xanthine, urate and creatinine were measured. The data were then examined statistically.