Human Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
نویسندگان
چکیده
منابع مشابه
Human hypoxanthine-guanine phosphoribosyltransferase.
A mutant form of human hypoxanthine-guanine phosphoribosyltransferase (HPRTToronto) was isolated from erythrocytes of a male patient with gout due to a partial deficiency of enzyme activity. The tryptic peptides of HPRTToronto were mapped by reverse-phase high pressure liquid chromatography in an attempt to define the precise abnormality in its primary structure. Sequence analysis of the single...
متن کاملHypoxanthine-Guanine Phosphoribosyltransferase Variant
A B S T R A C T We have previously described a 14-yrold boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high pH, and activity at standard substrate levels. In the present report an abnormal H...
متن کاملChinese Hamster Hypoxanthine-Guanine Phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase from Chinese hamster brain, liver, and V79 tissue culture cells appears to have identical structural and catalytic properties. The enzyme has been purified 540-fold to apparent homogeneity from Chinese hamster brain. The native molecular weight is 78,000 to 85,000 determined by Sephadex G-100 column chromatography and acrylamide gel electrophoresis...
متن کاملMechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Certain gouty subjects with excessive de novo purine synthesis are deficient in hypoxanthineguanine phosphoribosyltransferase (HG-PRTase [EC 2.4.2.8]). The mechanism of accelerated uric acid formation in these patients was explored by measuring the incorporation of glycine-(14)C into various urinary purine bases of normal and enzyme-deficient subjects during treatment with the xanthine oxidase ...
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1. E. K. McLean, Pharmac. Rev. 22, 429 (1970). 2. B. Meyrick, W. Gamble and L. Reid, Am. J. Physiol. 239, H692 (1980). 3. K. S. Hilliker, T. G. Bell and R. A. Roth, Am. J. Physiol. 242, H573 (1982). 4. J. M. Kay, P. M. Keane, K. L. Suyama and D. Gauthier, Thorax 37, 88 (1982). 5. L. Merkow and J. Kleinerman, Lab. Invest. 15, 547 (1966). 6. C. A. Wagenvoordt and N. Wagenvoordt, Circulation 42, 1...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1989
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(17)31289-9