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Biochemistry of the X-Linked Uric Aciduria—Enzyme Defect and Its Genetic Variants

Biochemistry of the X-Linked Uric Aciduria—Enzyme Defect and Its Genetic Variants Abstract Human hypoxanthine-guanine phosphoribosyltransferase manifests distinct kinetic, physical, and immunologic properties. A comparison of the normal and spontaneously occurring mutant forms of the enzyme indicates that its deficiency results from a large number of different mutations on a structural gene which is located within the X chromosome. This striking genetic heterogeneity is associated with the development of two distinctive clinical syndromes, the Lesch-Nyhan syndrome and a specific sub-type of gout. References 1. Lesch M, Nyhan WL: A familial disorder of uric acid metabolism and central nervous system function. Amer J Med 36:561-570, 1964.Crossref 2. Hoefnagel D, Andrew ED, Mireault NG, et al: Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. New Eng J Med 273:130-135, 1965.Crossref 3. Shapiro SL, Sheppard GL Jr, Dreifuss FE, et al: X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia. Proc Soc Exp Biol Med 122:609-611, 1966.Crossref 4. Reed WB, Fish CH: Hyperuricemia with self-mutilation and choreoathetosis: Lesch-Nyhan syndrome. Arch Derm 94:194-195, 1966.Crossref 5. Michener WM: Hyperuricemia and mental retardation with athetosis and self-mutilation. Amer J Dis Child 113:195-206, 1967.Crossref 6. Seegmiller JE, Rosenbloom FM, Kelley WN: An enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155:1682-1684, 1967.Crossref 7. Kelley WN, Rosenbloom FM, Henderson JF, et al: A specific enzyme defect in gout associated with overproduction of uric acid. Proc Nat Acad Sci USA 57:1735-1739, 1967.Crossref 8. Henderson JF: Dual effects of ammonium chloride on purine biosynthesis de novo in Ehrlich ascites-tumor cells in vitro. Biochim Biophys Acta 76:173-180, 1963.Crossref 9. Hartman SC: The interaction of 6-diazo-5-oxo-L-norleucine with phosphoribosyl pyrophosphate amidotransf erase. J Biol Chem 238:3036-3047, 1963. 10. Goldthwait DA: 5-phosphoribosylamine, a precursor of glycinamide ribotide. J Biol Chem 222:1051-1068, 1956. 11. Goldthwait DA, Peabody RA, Greenberg GR: On the mechanism of synthesis of glycinamide ribotide and its formyl derivative. J Biol Chem 221:569-577, 1956. 12. Smith OH, Yanofsky C: 1-(O-carboxyphenylamino)-1-deoxyribulose 5-phosphate, a new intermediate in the biosynthesis of tryptophane. J Biol Chem 235:2051-2057, 1960. 13. Wegman J, DeMoss JA: The enzymatic conversion of anthranilate to indolylglycerol phosphate in Neurospora crassa. J Biol Chem 240:3781-3788, 1965. 14. Henderson EJ, Zalkin H, Hwang LH: The anthranilate synthetase—anthranilate 5'-phosphoribosylpyrophosphate phosphoribosyltransferase aggregate. J Biol Chem 245:1424-1431, 1970. 15. Crowley GM: The enzymatic synthesis of 5'phosphoribosylimidazoleacetic acid. J Biol Chem 239:2593-2601, 1964. 16. Fernandes JF, Castellani O, Plese M: Biosynthesis of histamine ribotide and imidazoleacetate ribotide. Biochem Biophys Res Commun 3:679-684, 1960.Crossref 17. Preiss J, Handler P: Biosynthesis of diphosphopyridine nucleotide: II. Enzymatic aspects. J Biol Chem 233:493-500, 1958. 18. Preiss J, Handler P: Enzymatic synthesis of nicotinamide mononucleotide. J Biol Chem 225:759-770, 1957. 19. Kornberg A, Lieberman I, Sims ES: Enzymatic synthesis of purine nucleotides. J Biol Chem 215:417-427, 1955. 20. Hatfield D, Wyngaarden JB: 3-Ribosylpurines: I. Synthesis of (3'ribosyluric acid) 5'-phosphate and (3'-ribosylxanthine) 5'-phosphate by a pyrimidine ribonucleotide pyrophosphorylase of beef erythrocytes. J Biol Chem 239:2580-2586, 1964. 21. Korn ED, Remy CN, Wasileyko HC, et al: Biosynthesis of nucleotides from bases by partially purified enzymes. J Biol Chem 217:875-883, 1955. 22. Flaks JG, Erwin MJ, Buchanan JM: Biosynthesis of purines: XVI. The synthesis of adenosine 5'-phosphate and 5-amino-4-imidazolecarboxamide ribotide by a nucleotide pyrophosphorylase. J Biol Chem 228:201-229, 1957. 23. Kelley WN, Rosenbloom FM, Henderson JF, et al: Xanthine phosphoribosyltransferase in man: Relationship to hypoxanthine-guanine phosphoribosyltransferase. Biochem Biophys Res Commun 28:340-345, 1967.Crossref 24. Kelley WN, Greene ML, Rosenbloom FM, et al: Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med 70:155-206,1969.Crossref 25. Henderson JF, Rosenbloom FM, Kelley WN, et al: Variations in purine metabolism of cultured skin fibroblasts from patients with gout. J Clin Invest 47:1511-1516, 1968.Crossref 26. Smith LH, Huguley CM Jr, Bain JA: Hereditary orotic aciduria , in Stanbury JB, Wyngaarden JB, Frederickson DS (eds): Metabolic Basis of Inherited Disease , ed 2. New York, McGraw-Hill Book Co Inc, 1966, p 739. 27. Kelley WN, Levy RI, Rosenbloom FM, et al: Adenine phosphoribosyltransferase deficiency: A previously unrecognized genetic defect in man. J Clin Invest 47:2281-2289, 1968.Crossref 28. Henderson JF, Brox LW, Kelley WN, et al: Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem 243:2514-2522, 1968. 29. Krenitsky TA, Papaioannou R, Elion GB: Human hypoxanthine phosphoribosyltransferase: I. Purification, properties and specificity. J Biol Chem 244:1263-1270, 1969. 30. Krenitsky TA, Papaioannou R: Human hypoxanthine phosphoribosyltransferase: II. Kinetics and chemical modification. J Biol Chem 244:1271-1277, 1969. 31. Arnold WJ, Kelley WN: Human hypoxanthine-guanine phosphoribosyltransferase: Purification and subunit structure. J Biol Chem 246:7398-7404, 1971. 32. Brockman RW: Resistance to purine antagonists in experimental leukemia systems. Cancer Res 25:1596-1605, 1965. 33. Miller RL, Bieber AL: Purification and properties of inosine monophosphate: Pyrophosphate phosphoribosyltransferase. Biochemistry 7:1420-1426, 1968.Crossref 34. Henderson JF, Miller HR, Kelley WN, et al: Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases. Canad J Biochem 46:703-706, 1968.Crossref 35. Rosenbloom FM, Henderson JF, Caldwell IC, et al: Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem 243:1166-1173, 1968. 36. Greene ML, Seegmiller JE: Erythrocyte 5-phosphoribosyl-1-pyrophosphate (PRPP) in gout: Importance of PRPP in the regulation of human purine synthesis. Arthritis Rheum 12:666-667, 1969. 37. Fox IH, Wyngaarden JB, Kelley WN: Depletion of erythrocyte phosphoribosyl-pyrophosphate in man: A newly observed effect of allopurinol. New Eng J Med 283:1177-1182, 1970.Crossref 38. Fox IH, Kelley WN: Phosphoribosylpyrophosphate in man: Biochemical and clinical significance. Ann Intern Med 74:424-433, 1971.Crossref 39. Henderson JF: Kinetic properties of hypoxanthine-guanine and adenine phosphoribosyltransferase. Fed Proc 27:1053-1054, 1968. 40. Rubin CC, Dancis J, Yip LC, et al: Purification of IMP: Pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease. Proc Nat Acad Sci 68:1461-1464, 1971.Crossref 41. Bakay B, Nyhan WL: The separation of adenine and hypoxanthine-guanine phosphoribosyltransferases isoenzymes by disc gel electrophoresis. Biochem Genet 5:81-90, 1971.Crossref 42. Lijtha LG: On DNA labeling in the study of the dynamics of bone marrow cell populations , in Stohlman F (ed): The Kinetics of Cellular Proliferation . New York, Grune & Stratton Inc, 1959, p 173. 43. Leblond EP: Classical technics for the study of the kinetics of cellular proliferation , in Stohlman F (ed): The Kinetics of Cellular Proliferation . New York, Grune & Stratton Inc, 1959, p 31. 44. Murray AW: Purine-phosphoribosyltransferase activities in rat and mouse tissues and in Ehrlich ascites-tumor cells. Biochem J 100:664-670, 1966. 45. Epstein CJ: Phosphoribosyltransferase activity during early mammalian development. J Biol Chem 245:3289-3294, 1970. 46. Kelley WN, Meade JC: Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome: Evidence of genetic heterogeneity. J Biol Chem 246:2953-2958, 1971. 47. Murray AW: The activities and kinetic properties of purine phosphoribosyltransferases in developing mouse liver. Biochem J 104:675-678, 1967. 48. Kelley WN: Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout. Fed Proc 27:1047-1052, 1968. 49. Rosenbloom FM, Kelley WN, Miller J, et al: Inherited disorder of purine metabolism: Correlation between central nervous system dysfunction and biochemical defects. JAMA 202:175-177, 1967.Crossref 50. Mizuno T, Segawa M, Kurumada T, et al: Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children. Neuropaediatrie 2:38-52, 1970.Crossref 51. Sorenson L: Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. J Clin Invest 49:968-978, 1970.Crossref 52. Arnold WJ, Meade JC, Kelley WN: Hypoxanthine-guanine phosphoribosyltransferase: Characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome. J Clin Invest , to be published. 53. Fujimoto WY, Seegmiller JE: Hypoxanthine-guanine phosphoribosyltransferase deficiency activity in normal, mutant and heterozygote cultured human skin fibroblasts. Proc Nat Acad Sci USA 65:577-584, 1970.Crossref 54. Greene ML: Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme. Arch Intern Med 130:193-198, 1972.Crossref 55. Rosenbloom FM, Kelley WN, Henderson JF, et al: Lyon Hypothesis and X-linked disease. Lancet 2:305-306, 1967.Crossref 56. Migeon BR, Der Kaloustian VM, Nyhan WL, et al: X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency: Heterozygote has two clonal populations. Science 160:425-427, 1968.Crossref 57. Salzmann J, DeMars R, Benke P: Single allele expression at an X-linked hyperuricemia locus in heterozygous human cells. Proc Nat Acad Sci USA 60:545-552, 1968.Crossref 58. Henderson JF, Kelley WN, Rosenbloom FM, et al: Inheritance of purine phosphoribosyltransferase in man. Amer J Hum Genet 21:61-70, 1969. 59. Dancis J, Berman PH, Jansen V, et al: Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria. Life Sci 7:587-591, 1968.Crossref 60. Nyhan WL, Bakay B, Connor JD, et al: Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Nat Acad Sci 65:214-218, 1970.Crossref 61. McDonald JA, Kelley WN: Lesch-Nyhan syndrome: Absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyltransferase. Biochem Genet 6:21-27, 1972.Crossref 62. Kornberg A: Pathways of enzymatic synthesis of nucleotides and polynucleotides , in McElroy WE, Glass B (eds): The Chemical Basis of Heredity . Baltimore, Johns Hopkins Press, 1957, p 579. 63. Henderson JF: Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome. Fed Proc 27:1075-1077, 1968. 64. Smellie RMS, Thomson RY, Goutier R, et al: The incorporation of 14C-formate into nucleic acid bases in vitro and in vivo. Biochem Biophys Acta 22:585-587, 1956.Crossref 65. Henderson JF, Le Page GA: Utilization of host purines by transplanted tumors. Cancer Res 19:67-71, 1959. 66. Lajtha LG, Vane JR: Dependence of bone marrow cells on the liver for purine supply. Nature 182:191-192, 1958.Crossref 67. Howard WJ, Kerson LA, Appel SH: Synthesis de novo of purines in slices of rat brain and liver. J Neurochem 17:121-123, 1970.Crossref 68. Overgaard-Hansen K: Metabolic regulation of the adenine nucleotide pool: I. Studies on the transient exhaustion of the adenine nucleotides by glucose in Ehrlich ascites tumor cells. Biochem Biophys Acta 104:330-347, 1965.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Biochemistry of the X-Linked Uric Aciduria—Enzyme Defect and Its Genetic Variants

Archives of Internal Medicine , Volume 130 (2) – Aug 1, 1972

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American Medical Association
Copyright
Copyright © 1972 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1972.03650020029006
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Abstract

Abstract Human hypoxanthine-guanine phosphoribosyltransferase manifests distinct kinetic, physical, and immunologic properties. A comparison of the normal and spontaneously occurring mutant forms of the enzyme indicates that its deficiency results from a large number of different mutations on a structural gene which is located within the X chromosome. This striking genetic heterogeneity is associated with the development of two distinctive clinical syndromes, the Lesch-Nyhan syndrome and a specific sub-type of gout. References 1. Lesch M, Nyhan WL: A familial disorder of uric acid metabolism and central nervous system function. Amer J Med 36:561-570, 1964.Crossref 2. Hoefnagel D, Andrew ED, Mireault NG, et al: Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. New Eng J Med 273:130-135, 1965.Crossref 3. Shapiro SL, Sheppard GL Jr, Dreifuss FE, et al: X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia. Proc Soc Exp Biol Med 122:609-611, 1966.Crossref 4. Reed WB, Fish CH: Hyperuricemia with self-mutilation and choreoathetosis: Lesch-Nyhan syndrome. Arch Derm 94:194-195, 1966.Crossref 5. Michener WM: Hyperuricemia and mental retardation with athetosis and self-mutilation. Amer J Dis Child 113:195-206, 1967.Crossref 6. Seegmiller JE, Rosenbloom FM, Kelley WN: An enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155:1682-1684, 1967.Crossref 7. Kelley WN, Rosenbloom FM, Henderson JF, et al: A specific enzyme defect in gout associated with overproduction of uric acid. Proc Nat Acad Sci USA 57:1735-1739, 1967.Crossref 8. Henderson JF: Dual effects of ammonium chloride on purine biosynthesis de novo in Ehrlich ascites-tumor cells in vitro. Biochim Biophys Acta 76:173-180, 1963.Crossref 9. Hartman SC: The interaction of 6-diazo-5-oxo-L-norleucine with phosphoribosyl pyrophosphate amidotransf erase. J Biol Chem 238:3036-3047, 1963. 10. Goldthwait DA: 5-phosphoribosylamine, a precursor of glycinamide ribotide. J Biol Chem 222:1051-1068, 1956. 11. Goldthwait DA, Peabody RA, Greenberg GR: On the mechanism of synthesis of glycinamide ribotide and its formyl derivative. J Biol Chem 221:569-577, 1956. 12. Smith OH, Yanofsky C: 1-(O-carboxyphenylamino)-1-deoxyribulose 5-phosphate, a new intermediate in the biosynthesis of tryptophane. J Biol Chem 235:2051-2057, 1960. 13. Wegman J, DeMoss JA: The enzymatic conversion of anthranilate to indolylglycerol phosphate in Neurospora crassa. J Biol Chem 240:3781-3788, 1965. 14. Henderson EJ, Zalkin H, Hwang LH: The anthranilate synthetase—anthranilate 5'-phosphoribosylpyrophosphate phosphoribosyltransferase aggregate. J Biol Chem 245:1424-1431, 1970. 15. Crowley GM: The enzymatic synthesis of 5'phosphoribosylimidazoleacetic acid. J Biol Chem 239:2593-2601, 1964. 16. Fernandes JF, Castellani O, Plese M: Biosynthesis of histamine ribotide and imidazoleacetate ribotide. Biochem Biophys Res Commun 3:679-684, 1960.Crossref 17. Preiss J, Handler P: Biosynthesis of diphosphopyridine nucleotide: II. Enzymatic aspects. J Biol Chem 233:493-500, 1958. 18. Preiss J, Handler P: Enzymatic synthesis of nicotinamide mononucleotide. J Biol Chem 225:759-770, 1957. 19. Kornberg A, Lieberman I, Sims ES: Enzymatic synthesis of purine nucleotides. J Biol Chem 215:417-427, 1955. 20. Hatfield D, Wyngaarden JB: 3-Ribosylpurines: I. Synthesis of (3'ribosyluric acid) 5'-phosphate and (3'-ribosylxanthine) 5'-phosphate by a pyrimidine ribonucleotide pyrophosphorylase of beef erythrocytes. J Biol Chem 239:2580-2586, 1964. 21. Korn ED, Remy CN, Wasileyko HC, et al: Biosynthesis of nucleotides from bases by partially purified enzymes. J Biol Chem 217:875-883, 1955. 22. Flaks JG, Erwin MJ, Buchanan JM: Biosynthesis of purines: XVI. The synthesis of adenosine 5'-phosphate and 5-amino-4-imidazolecarboxamide ribotide by a nucleotide pyrophosphorylase. J Biol Chem 228:201-229, 1957. 23. Kelley WN, Rosenbloom FM, Henderson JF, et al: Xanthine phosphoribosyltransferase in man: Relationship to hypoxanthine-guanine phosphoribosyltransferase. Biochem Biophys Res Commun 28:340-345, 1967.Crossref 24. Kelley WN, Greene ML, Rosenbloom FM, et al: Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med 70:155-206,1969.Crossref 25. Henderson JF, Rosenbloom FM, Kelley WN, et al: Variations in purine metabolism of cultured skin fibroblasts from patients with gout. J Clin Invest 47:1511-1516, 1968.Crossref 26. Smith LH, Huguley CM Jr, Bain JA: Hereditary orotic aciduria , in Stanbury JB, Wyngaarden JB, Frederickson DS (eds): Metabolic Basis of Inherited Disease , ed 2. New York, McGraw-Hill Book Co Inc, 1966, p 739. 27. Kelley WN, Levy RI, Rosenbloom FM, et al: Adenine phosphoribosyltransferase deficiency: A previously unrecognized genetic defect in man. J Clin Invest 47:2281-2289, 1968.Crossref 28. Henderson JF, Brox LW, Kelley WN, et al: Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem 243:2514-2522, 1968. 29. Krenitsky TA, Papaioannou R, Elion GB: Human hypoxanthine phosphoribosyltransferase: I. Purification, properties and specificity. J Biol Chem 244:1263-1270, 1969. 30. Krenitsky TA, Papaioannou R: Human hypoxanthine phosphoribosyltransferase: II. Kinetics and chemical modification. J Biol Chem 244:1271-1277, 1969. 31. Arnold WJ, Kelley WN: Human hypoxanthine-guanine phosphoribosyltransferase: Purification and subunit structure. J Biol Chem 246:7398-7404, 1971. 32. Brockman RW: Resistance to purine antagonists in experimental leukemia systems. Cancer Res 25:1596-1605, 1965. 33. Miller RL, Bieber AL: Purification and properties of inosine monophosphate: Pyrophosphate phosphoribosyltransferase. Biochemistry 7:1420-1426, 1968.Crossref 34. Henderson JF, Miller HR, Kelley WN, et al: Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases. Canad J Biochem 46:703-706, 1968.Crossref 35. Rosenbloom FM, Henderson JF, Caldwell IC, et al: Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem 243:1166-1173, 1968. 36. Greene ML, Seegmiller JE: Erythrocyte 5-phosphoribosyl-1-pyrophosphate (PRPP) in gout: Importance of PRPP in the regulation of human purine synthesis. Arthritis Rheum 12:666-667, 1969. 37. Fox IH, Wyngaarden JB, Kelley WN: Depletion of erythrocyte phosphoribosyl-pyrophosphate in man: A newly observed effect of allopurinol. New Eng J Med 283:1177-1182, 1970.Crossref 38. Fox IH, Kelley WN: Phosphoribosylpyrophosphate in man: Biochemical and clinical significance. Ann Intern Med 74:424-433, 1971.Crossref 39. Henderson JF: Kinetic properties of hypoxanthine-guanine and adenine phosphoribosyltransferase. Fed Proc 27:1053-1054, 1968. 40. Rubin CC, Dancis J, Yip LC, et al: Purification of IMP: Pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease. Proc Nat Acad Sci 68:1461-1464, 1971.Crossref 41. Bakay B, Nyhan WL: The separation of adenine and hypoxanthine-guanine phosphoribosyltransferases isoenzymes by disc gel electrophoresis. Biochem Genet 5:81-90, 1971.Crossref 42. Lijtha LG: On DNA labeling in the study of the dynamics of bone marrow cell populations , in Stohlman F (ed): The Kinetics of Cellular Proliferation . New York, Grune & Stratton Inc, 1959, p 173. 43. Leblond EP: Classical technics for the study of the kinetics of cellular proliferation , in Stohlman F (ed): The Kinetics of Cellular Proliferation . New York, Grune & Stratton Inc, 1959, p 31. 44. Murray AW: Purine-phosphoribosyltransferase activities in rat and mouse tissues and in Ehrlich ascites-tumor cells. Biochem J 100:664-670, 1966. 45. Epstein CJ: Phosphoribosyltransferase activity during early mammalian development. J Biol Chem 245:3289-3294, 1970. 46. Kelley WN, Meade JC: Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome: Evidence of genetic heterogeneity. J Biol Chem 246:2953-2958, 1971. 47. Murray AW: The activities and kinetic properties of purine phosphoribosyltransferases in developing mouse liver. Biochem J 104:675-678, 1967. 48. Kelley WN: Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout. Fed Proc 27:1047-1052, 1968. 49. Rosenbloom FM, Kelley WN, Miller J, et al: Inherited disorder of purine metabolism: Correlation between central nervous system dysfunction and biochemical defects. JAMA 202:175-177, 1967.Crossref 50. Mizuno T, Segawa M, Kurumada T, et al: Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children. Neuropaediatrie 2:38-52, 1970.Crossref 51. Sorenson L: Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. J Clin Invest 49:968-978, 1970.Crossref 52. Arnold WJ, Meade JC, Kelley WN: Hypoxanthine-guanine phosphoribosyltransferase: Characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome. J Clin Invest , to be published. 53. Fujimoto WY, Seegmiller JE: Hypoxanthine-guanine phosphoribosyltransferase deficiency activity in normal, mutant and heterozygote cultured human skin fibroblasts. Proc Nat Acad Sci USA 65:577-584, 1970.Crossref 54. Greene ML: Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme. Arch Intern Med 130:193-198, 1972.Crossref 55. Rosenbloom FM, Kelley WN, Henderson JF, et al: Lyon Hypothesis and X-linked disease. Lancet 2:305-306, 1967.Crossref 56. Migeon BR, Der Kaloustian VM, Nyhan WL, et al: X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency: Heterozygote has two clonal populations. Science 160:425-427, 1968.Crossref 57. Salzmann J, DeMars R, Benke P: Single allele expression at an X-linked hyperuricemia locus in heterozygous human cells. Proc Nat Acad Sci USA 60:545-552, 1968.Crossref 58. Henderson JF, Kelley WN, Rosenbloom FM, et al: Inheritance of purine phosphoribosyltransferase in man. Amer J Hum Genet 21:61-70, 1969. 59. Dancis J, Berman PH, Jansen V, et al: Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria. Life Sci 7:587-591, 1968.Crossref 60. Nyhan WL, Bakay B, Connor JD, et al: Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Nat Acad Sci 65:214-218, 1970.Crossref 61. McDonald JA, Kelley WN: Lesch-Nyhan syndrome: Absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyltransferase. Biochem Genet 6:21-27, 1972.Crossref 62. Kornberg A: Pathways of enzymatic synthesis of nucleotides and polynucleotides , in McElroy WE, Glass B (eds): The Chemical Basis of Heredity . Baltimore, Johns Hopkins Press, 1957, p 579. 63. Henderson JF: Possible functions of hypoxanthine-guanine phosphoribosyltransferase and their relation to the biochemical pathology of the Lesch-Nyhan syndrome. Fed Proc 27:1075-1077, 1968. 64. Smellie RMS, Thomson RY, Goutier R, et al: The incorporation of 14C-formate into nucleic acid bases in vitro and in vivo. Biochem Biophys Acta 22:585-587, 1956.Crossref 65. Henderson JF, Le Page GA: Utilization of host purines by transplanted tumors. Cancer Res 19:67-71, 1959. 66. Lajtha LG, Vane JR: Dependence of bone marrow cells on the liver for purine supply. Nature 182:191-192, 1958.Crossref 67. Howard WJ, Kerson LA, Appel SH: Synthesis de novo of purines in slices of rat brain and liver. J Neurochem 17:121-123, 1970.Crossref 68. Overgaard-Hansen K: Metabolic regulation of the adenine nucleotide pool: I. Studies on the transient exhaustion of the adenine nucleotides by glucose in Ehrlich ascites tumor cells. Biochem Biophys Acta 104:330-347, 1965.Crossref

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Aug 1, 1972

References