Studies on Enzymological Abnormalities of Blood Cells obtained from a Case of 2, 8-Dihydroxyadenine Urolithiasis
Blood sample obtained from a girl of 7 years old who received a diagnosis of urolithiasis of 2,8-dihydroxyadenine was subjected for enzymological studies on purine nucleotide biosynthesis including APRTase, HGPRTase, PRPPsynthetase. APRTase activity in erythrocyt e s was 0.45nmoles/mg prot. /hr (2.5...
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| Published in | Uric acid research Vol. 7; no. 1; pp. 77 - 85 |
|---|---|
| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
Japanese Society of Gout and Nucleic Acid Metabolism
1983
一般社団法人 日本痛風・核酸代謝学会 |
| Online Access | Get full text |
| ISSN | 0388-4120 2187-0098 |
| DOI | 10.14867/gnam1977.7.1_77 |
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| Abstract | Blood sample obtained from a girl of 7 years old who received a diagnosis of urolithiasis of 2,8-dihydroxyadenine was subjected for enzymological studies on purine nucleotide biosynthesis including APRTase, HGPRTase, PRPPsynthetase. APRTase activity in erythrocyt e s was 0.45nmoles/mg prot. /hr (2.5 per cent of normal) in the patient, and 4.75, 3.94, 6.20nmoles/mg prot. /hr (ranging from 20 to 31 per cent of norm al) in her clinically healthy brother, father and mother respectively. But HGPRTase activity in erythrocytes was 73.2, 70.0 nmoles/mg prot/hr (within normal range) and PRPPsynthetase activity in erythrocytes was 36.0,31.8 nmoles/mg prot. /hr (within normal range) in the patient and her mother respectively. These findings suggested that the patient is homozygote and families are heterozygotes for this enzyme defect and the expression in phenotype is variable. In this case, however, the possibility of acceleration of IMP production is not excluded, because PRPP concentration in erythrocytes is thought to be elevated than that of normal subjects. This possibility is now under investigation using high performance liquid chromatography. |
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| AbstractList | Blood sample obtained from a girl of 7 years old who received a diagnosis of urolithiasis of 2,8-dihydroxyadenine was subjected for enzymological studies on purine nucleotide biosynthesis including APRTase, HGPRTase, PRPPsynthetase. APRTase activity in erythrocyt e s was 0.45nmoles/mg prot. /hr (2.5 per cent of normal) in the patient, and 4.75, 3.94, 6.20nmoles/mg prot. /hr (ranging from 20 to 31 per cent of norm al) in her clinically healthy brother, father and mother respectively. But HGPRTase activity in erythrocytes was 73.2, 70.0 nmoles/mg prot/hr (within normal range) and PRPPsynthetase activity in erythrocytes was 36.0,31.8 nmoles/mg prot. /hr (within normal range) in the patient and her mother respectively. These findings suggested that the patient is homozygote and families are heterozygotes for this enzyme defect and the expression in phenotype is variable. In this case, however, the possibility of acceleration of IMP production is not excluded, because PRPP concentration in erythrocytes is thought to be elevated than that of normal subjects. This possibility is now under investigation using high performance liquid chromatography. |
| Author | UCHINO, Haruto HIGUCHI, Tomihiko NAKAMURA, Toru ANDO, Seisho NORO, Tadao UCHIDA, Michihiko KUBO, Akemi KAGAWA, Daizaburo UEDA, Takanori SASADA, Masataka |
| Author_FL | 中村 徹 内野 治人 上田 孝典 安藤 精章 樋口 富彦 野呂 忠夫 久保 明美 内田 三千彦 笹田 昌孝 加川 大三郎 |
| Author_FL_xml | – sequence: 1 fullname: 加川 大三郎 – sequence: 2 fullname: 中村 徹 – sequence: 3 fullname: 上田 孝典 – sequence: 4 fullname: 安藤 精章 – sequence: 5 fullname: 久保 明美 – sequence: 6 fullname: 笹田 昌孝 – sequence: 7 fullname: 内野 治人 – sequence: 8 fullname: 内田 三千彦 – sequence: 9 fullname: 樋口 富彦 – sequence: 10 fullname: 野呂 忠夫 |
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| References | 6) Van Acker KJ, Simmonds HA, Potter C: The complete deficiency of adenine phosphoribosyltransferase. N Engl J Med 297(3): 127-132 (1976 20) Rubin CS, Bails ME, Piomelli S et al: Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiency. J Lab Clin Med 74: 732-741(19 69 7) Simmonds HA, Van Acker KJ, Cameron JS: A new cause of urinary calculi, Urolithiasis research, Plenum Press, pp 51 7 -521 ( 1976 25) Gordon RB, Thompson L, Emmerson PT: Erythrocyte phosp h oribosylpyrophosphate concentrations in heteroz ygotes for hypoxanthine guanine phosphoribosyltransfer ase defici e ncy. M e tabo lism 23: 921-927 (1974 18) Lowry OH, Rosenbloom FM, Henderson JF et al: Protein measurement w ith folin phenol reagent. J Biol Chem 193: 265 -275(1951 28) Brosh S, Boer P, Kupfer B et al: De novo synthesis of purine nucleotide in human peripheral blood leucocytes. J Clin Invest 58: 289-297 (1976 26) Reem GH: Phosphoribosylpyrophosphate overproduction, a new metabolism abnormality in the Lesch-Nyhan syndrom e. Science 190: 1098-1099 (1975 5) Edwards NL, Recker D, Fox L: Overproduction of uric acid in hypoxanthine guanine phosphoribosyltransferase deficiency. J Clin Invest 63: 922-930 (1977 22) Henderson JF, Khoo MKY: Synthesis of 5-phosphoribosyl- 1-pyrophosphate from glucose in Ehrich ascites tumor cells in vitro. J Biol Chem 240: 2 349-2357( 1971 14) Simmonds HA, Van Acker KJ, Cameron JS et al: The identi fication of 2, 8-dihydroxyadenine, A new component of ur inary stones. Biochem J 157: 485-487(197 6 3) Se egmiller JE, Rosenbloom FM, Kelly WN: Enzyme defect associated with a sex-linked human neurcrlogical disorder and excessive purine syntlietase. Science155: 1683-16 84(1967 12) Fox IH, Lacroixs, Planet G et al: Partial deficiency of adenine phosphoribosy l transferase in man. Medicine 56: 515-526(1977 10) Fox IH, Kelly WN: Adenine phosphori bosyltransferase deficiency, purine metabolism in man, Plenum Press, pp 31 9-326(1974 19) Kelley WN, Fox IH: Human phosphoribosylpyrophosphate synthetase. J Biol Chem 246 (18): 5 739-5748 (1971 17) Thomas CB, Arnold WJ, Kelley WN: Human adenine pho s pho ribosylt ran sferase. J Biol Chem 248: 2529-2535 ( 1973 4) Kelley WN, Rosenbloom F M, Henderson JF et al: A specific enzyme defectin gout associated with overproduction of uric acid. Proc Natl Acad Sci USA 57: 1735-1739(1967 11) Fox IH, Meade JC, Kelley WN: Adenine phosphoribosyltransferase deficiency in man. Am J Med 55: 614-620 (1973 21) Higuchi T: Phosphorylation of 6-mercaptopurine in human leukemic cell s and phosphoribosylpyrophosphate. Acta Ha ematol Jpn 38: 248-258 (1975 27) Rosenbloom FM: Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine guanine phosphoribosyltransferase. J Biol Chem 243: 1166-1173 (1968 9) Kelley WN, Levy RI, Rosenbloom FM et al: Adenine phosphoribosyltransferase deficiency. J Cli n Invest 47: 2281-2289(1968 23) Higuchi T: Phosphorylation of 6-mercaptopurine in human leukemic cell s. Acta Haemat Jpn 37: 252-288 (1974 24) Fox IH, Kelley WN: Phosphoribosylpyrophosphate in man, Bio chemical and clinical significance. Ann Intern Med 74:424: 433 (1971 16) Kenimer JG, Young LG, Groth DP: Purification and properties of rat liver adenine phosphoribosyltransferase. Biochem Biophys Acta 384: 8 7-101 (1975 2) Lesch M, Nyhan WL: A familial disorder of uric acid and metabolism and central nervous function. Am J Med 36: 5 61-570 (1964 15) Skoog WA, Beak WS: Studies on the fibrinogen, dextran and phytohemaggluti nin methods of isolating leu cocytes. Blood 11: 436-454 (1956 1)中村徹: プリン代謝と尿酸生合成. 内科セミナーMET4痛風織田敏次ら編, PP1-30(1979 8) Ta keuchi H, Uchida M, Nakamura T: 2, 8-Dihydroxyadenine urolithiasis associated with incomplete adenine phoshp o ribosyltransferase deficiency. Acta Urol Jpn 27: 189- 193 (1981 13)野呂忠夫, 信原令子, 荻原正明他: 腎不全症状をくり返した小児の2, 8-dihydroxyadenine結石症の一例. 臨床泌尿器科341271-274(1980 |
| References_xml | – reference: 6) Van Acker KJ, Simmonds HA, Potter C: The complete deficiency of adenine phosphoribosyltransferase. N Engl J Med 297(3): 127-132 (1976) – reference: 8) Ta keuchi H, Uchida M, Nakamura T: 2, 8-Dihydroxyadenine urolithiasis associated with incomplete adenine phoshp o ribosyltransferase deficiency. Acta Urol Jpn 27: 189- 193 (1981) – reference: 22) Henderson JF, Khoo MKY: Synthesis of 5-phosphoribosyl- 1-pyrophosphate from glucose in Ehrich ascites tumor cells in vitro. J Biol Chem 240: 2 349-2357( 1971 ) – reference: 10) Fox IH, Kelly WN: Adenine phosphori bosyltransferase deficiency, purine metabolism in man, Plenum Press, pp 31 9-326(1974) – reference: 7) Simmonds HA, Van Acker KJ, Cameron JS: A new cause of urinary calculi, Urolithiasis research, Plenum Press, pp 51 7 -521 ( 1976) – reference: 11) Fox IH, Meade JC, Kelley WN: Adenine phosphoribosyltransferase deficiency in man. Am J Med 55: 614-620 (1973) – reference: 27) Rosenbloom FM: Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine guanine phosphoribosyltransferase. J Biol Chem 243: 1166-1173 (1968) – reference: 9) Kelley WN, Levy RI, Rosenbloom FM et al: Adenine phosphoribosyltransferase deficiency. J Cli n Invest 47: 2281-2289(1968) – reference: 13)野呂忠夫, 信原令子, 荻原正明他: 腎不全症状をくり返した小児の2, 8-dihydroxyadenine結石症の一例. 臨床泌尿器科341271-274(1980) – reference: 18) Lowry OH, Rosenbloom FM, Henderson JF et al: Protein measurement w ith folin phenol reagent. J Biol Chem 193: 265 -275(1951) – reference: 2) Lesch M, Nyhan WL: A familial disorder of uric acid and metabolism and central nervous function. Am J Med 36: 5 61-570 (1964) – reference: 20) Rubin CS, Bails ME, Piomelli S et al: Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiency. J Lab Clin Med 74: 732-741(19 69) – reference: 23) Higuchi T: Phosphorylation of 6-mercaptopurine in human leukemic cell s. Acta Haemat Jpn 37: 252-288 (1974) – reference: 4) Kelley WN, Rosenbloom F M, Henderson JF et al: A specific enzyme defectin gout associated with overproduction of uric acid. Proc Natl Acad Sci USA 57: 1735-1739(1967) – reference: 28) Brosh S, Boer P, Kupfer B et al: De novo synthesis of purine nucleotide in human peripheral blood leucocytes. J Clin Invest 58: 289-297 (1976) – reference: 5) Edwards NL, Recker D, Fox L: Overproduction of uric acid in hypoxanthine guanine phosphoribosyltransferase deficiency. J Clin Invest 63: 922-930 (1977 ) – reference: 14) Simmonds HA, Van Acker KJ, Cameron JS et al: The identi fication of 2, 8-dihydroxyadenine, A new component of ur inary stones. Biochem J 157: 485-487(197 6) – reference: 26) Reem GH: Phosphoribosylpyrophosphate overproduction, a new metabolism abnormality in the Lesch-Nyhan syndrom e. Science 190: 1098-1099 (1975) – reference: 25) Gordon RB, Thompson L, Emmerson PT: Erythrocyte phosp h oribosylpyrophosphate concentrations in heteroz ygotes for hypoxanthine guanine phosphoribosyltransfer ase defici e ncy. M e tabo lism 23: 921-927 (1974) – reference: 19) Kelley WN, Fox IH: Human phosphoribosylpyrophosphate synthetase. J Biol Chem 246 (18): 5 739-5748 (1971) – reference: 1)中村徹: プリン代謝と尿酸生合成. 内科セミナーMET4痛風織田敏次ら編, PP1-30(1979) – reference: 16) Kenimer JG, Young LG, Groth DP: Purification and properties of rat liver adenine phosphoribosyltransferase. Biochem Biophys Acta 384: 8 7-101 (1975) – reference: 15) Skoog WA, Beak WS: Studies on the fibrinogen, dextran and phytohemaggluti nin methods of isolating leu cocytes. Blood 11: 436-454 (1956) – reference: 17) Thomas CB, Arnold WJ, Kelley WN: Human adenine pho s pho ribosylt ran sferase. J Biol Chem 248: 2529-2535 ( 1973) – reference: 21) Higuchi T: Phosphorylation of 6-mercaptopurine in human leukemic cell s and phosphoribosylpyrophosphate. Acta Ha ematol Jpn 38: 248-258 (1975) – reference: 24) Fox IH, Kelley WN: Phosphoribosylpyrophosphate in man, Bio chemical and clinical significance. Ann Intern Med 74:424: 433 (1971) – reference: 3) Se egmiller JE, Rosenbloom FM, Kelly WN: Enzyme defect associated with a sex-linked human neurcrlogical disorder and excessive purine syntlietase. Science155: 1683-16 84(1967) – reference: 12) Fox IH, Lacroixs, Planet G et al: Partial deficiency of adenine phosphoribosy l transferase in man. Medicine 56: 515-526(1977) |
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