Deficiency urate metabolism

URATE METABOLISM IN HETEROZYGOTES FOR HGPRTase DEFICIENCY B.T. EMMERSON... 

It is suggested that the determination of PRPP concentration in erythrocytes is an additional parameter to be considered in understanding the biochemical basis for abnormal urate metabolism demonstrated in some heterozygotes for the moderate HGPRTase deficiency. 

Burr GO, Brown JB, Kass JP, Lundberg WO. Comparative curative values of unsat urated fatty acids in fat deficiency. Proc Soc Exp Biol Med 1940 44 242-244. Clarke SD. Polyunsaturated fatty acid regulation of gene transcription A molecular mechanism to improve the metabolic syndrome. J Nutr 2001 131 1129-1132. Cuthbertson WFJ. Essential fatty acid requirements in infancy. Am J Clin Nutr 1976 ... 

Recent advances in the understanding of human purine metabolism have been stimulated by the discovery of specific inborn errors of this pathway in man. In particular, the demonstration of the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the Lesch-Nyhan syndrome and in some patients with gout has contributed essential information on the regulation of purine biosynthesis novo and on the critical role of this reutilization pathway in central nervous system function in man. The search for other disorders led to the description of a partial deficiency of adenine phosphoribosyltransferase (APRT) in four members in three generations of one family. Each of the subjects partially deficient in APRT exhibited a normal serum urate concentration and the propositus had a normal excretion of uric acid (Kelley, et al., 1968). We have investigated a second family partially deficient in APRT (Fox and Kelley, in press). 

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