Clinical chemistry and molecular biology of homocysteine metabolism: An update

Clinical Biochemistry

Volumn 30, Issue 3, 1997, Pages 189-201

  Miner, Steven E S ^c   Evrovski, Jovan ^c   Cole, David E C ^a,b  

^a UNIVERSITY HEALTH NETWORK   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c NONE

Author keywords

atherosclerosis; cobalamin; folate; homocysteine; neural tube defects; thromboembolism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENOSINE; ADENOSYLHOMOCYSTEINASE; ALBUMIN; AMINO ACID; BETAINE; COBALAMIN; CORTICOSTEROID; CREATININE; CYANOCOBALAMIN; CYCLOSPORIN; CYSTATHIONINE; CYSTATHIONINE BETA SYNTHASE; DIMETHYLGLYCINE; DNA; ESTRADIOL; FOLIC ACID; GAMMA GLUTAMYL HYDROLASE; HOMOCYSTEINE; MECOBALAMIN; METHIONINE; METHIONINE SYNTHASE; METHYLENETETRAHYDROFOLIC ACID; METHYLMALONIC ACID; METHYLTRANSFERASE; PYRIDOXINE; S ADENOSYLHOMOCYSTEINE; S ADENOSYLMETHIONINE; SERINE; UNINDEXED DRUG;

ARTICLE; ATHEROSCLEROSIS; BLOOD LEVEL; CLINICAL CHEMISTRY; DISEASE ASSOCIATION; GAS CHROMATOGRAPHY; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOCYSTINURIA; HUMAN; KIDNEY FAILURE; LIFESTYLE; MASS SPECTROMETRY; METABOLISM; MOLECULAR BIOLOGY; NEURAL TUBE DEFECT; PREGNANCY; PRIORITY JOURNAL; THROMBOEMBOLISM; TRANSPLANTATION; VITAMIN DEFICIENCY;

EID: 0030946890     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(96)00172-5     Document Type: Review

References (139)

1. Mudd SH, Levy HL, Skovby F, Disorders of transsulfuration. In: The metabolic and molecular bases of inherited disease. 7th ed. Pp. 1279-327. Eds. Scriver CR, Beaudet AL, Sly WS, Valle D, New York: McGraw Hill Inc., 1995.
2. Skovby F. Homocystinuria; Clinical, biochemical and genetic aspects of cystathionine β-synthase and its deficiency in man. Acta Paed Scand 1985; Suppl. 321: 7-21.
3. Boers GHJ, Fowler B, Smals AGH, Trijbels FJM, Leermakers AI. Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet 1985; 69: 164-9.
4. Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am J Hum Genet 1985; 37-1-31.
5. Blundell G, Rose FA, Tudball N. Homocysteine induced endothelial cell toxicity and its protection. Biochem Soc Trans 1994; 22: 341S.
6. Clarke R, Naughten E, Cahalane S, Sullivan KO, Mathias P, McCall TG, I. The role of free radicals as mediators of endothelial cell injury in hyperhomocysteinemia. Ir J Med Sci 1992; 161: 561-4.
7. Tsai JC, Perrella MA, Yoshizumi M, et al. Promotion of vascular smooth muscle cell growth by homocysteine: a link to atherosclerosis. Proc Nat Acad Sci USA 1994; 91: 6369-73.
8. Tsai JC, Wang H, Perrella MA, et al. Induction of cyclin A gene expression by homocysteine in vascular smooth muscle cells. J Clin Invest 1996; 97: 146-53.
9. Malinow MR, Nieto FJ, Szklo M, Chambless LE, Bond G. Carotid artery intimal-medial wall thickening and plasma homocyst(e)ine in asymptomatic adults. The Atherosclerosis Risk in Communities Study. Circulation 1993; 87: 1107-13.
10. Harpel PC, Zhang X, Borth W. Homocysteine and hemostasis: pathogenetic mechanisms predisposing to thrombosis. J Nutr 1996; 126: 1285S-9S.
11. McCully KS. Homocysteine and vascular disease. Nature Med 1996; 2: 386-9.
12. Lentz SR, Sadler JE. Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine. J Clin Invest 1991; 88: 1906-14.
13. Hultberg B, Andersson A, Isaksson A. Metabolism of homocysteine, its relation to the other cellular thiols and its mechanism of cell damage in a cell culture line (human histiocytic cell line U-937). Biochim Biophys Acta 1995; 1269: 6-12.
14. Brattstrom L, Lindgren A, Israelsson B, et al. Hyperhomocysteinaemia in stroke: prevalence, cause, and relationships to type of stroke and stroke risk factors. Eur J Clin Invest 1992; 22: 214-21.
15. Masser PA, Taylor LM, Jr., Porter JM. Importance of elevated plasma homocysteine levels as a risk factor for atherosclerosis. Ann Thorac Surg 1994; 58: 1240-6.
16. Clarke R, Daly L, Robinson K, Naughten E, Cahalane S, Fowler BG, I. Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med 1991; 324: 1149-55.
17. Molgaard J, Malinow MR, Lassvik C, Holm AC, Upson B, Olsson AG. Hyperhomocyst(e)inaemia: an independent risk factor for intermittent claudication. J Int Med 1992; 231: 273-9.
18. Taylor LM, Jr., DeFrang RD, Harris EJ, Jr., Porter JM. The association of elevated plasma homocyst(e)ine with progression of symptomatic peripheral arterial disease. J Vasc Surg 1991; 13: 128-36.
19. Perry IJ, Refsum H, Morris RW, Ebrahim SB, Ueland PM, Shaper AG. Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men. Lancet 1995; 346: 1395-8.
20. den Heijer M, Koster T, Blom HJ, et al. Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med 1996; 334: 759-62.
21. Nygard O, Vollset SE, Refsum H, et al. Total plasma homocysteine and cardiovascular risk profile. J Am Med Assoc 1995; 274: 1526-33.
22. van der Put NMJ, Steegers-Thenissen RPM, Frosst P, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995; 346: 1070-1.
23. Finkelstein JD, Martin JJ. Methionine metabolism in mammals: adaptation to methionine excess. J Biol Chem 1986; 261: 1582-7.
24. Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: The metabolic and molecular bases of inherited disease. 7th ed. Eds. Scriver CR, Beaudet AL, Sly WS, Valle D, Pp. 3111-28. New York: McGraw Hill Inc., 1995.
25. Mayer EL, Jacobsen DW, Robinson K. Homocysteine and coronary atherosclerosis. J Am Coll Cardiol 1996; 27: 517-27.
26. Wilcken DEL, Wilcken B, Dudman NPB, Tyrrell PA. Homocystinuria - the effects of betaine in the treatment of patients not responsive to pyridoxine. N Engl J Med 1983; 309: 448-53.
27. Nordstrom M, Kjellstrom T. Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease. Atherosclerosis 1992; 94: 213-21.
28. Simon DI, Stamler JS, Jaraki O, et al. Antiplatelet properties of protein S-nitrosothiol derived from nitric oxide and endothelium-derived relaxing factor. Arteriosclerosis Throrab 1993; 13: 791-9.
29. Boers GHJ, Smals AGH, Trijbels FJM, et al. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med 1985; 313: 709-15.
30. Ibels LS, Stewart JH, Mahony JF, Neale FC, Sheil AGR. Occlusive arterial disease in uraemic and haemodialysis patients and renal transplant recipients. Qu J Med 1977; 66: 197-214.
31. Kozich V, Kraus E, de Franchis R, et al. Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level. Hum Mol Genet 1995; 4: 623-29.
32. Kluijtmans LAJ, van den Heuvel LPWJ, Boers GHJ, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996; 58: 35-41.
33. Kuo L, Davis MJ, Cannon MS, Chilian WM. Pathophysiological consequences of athersclerosis extend into the coronary microcirculation: restoration of endothelium-dependent responses by L-arginine. Circ Res 1992; 70: 465-76.
34. McCully KS. Homocysteine and vascular disease. Nature Med 1996; 2: 386-9.
35. Rozen R. Molecular genetic aspects of hyperhomocysteinemia and its relation to folic acid. Clin Invest Med 1996; 19: 171-8.
36. de Franchis R, Mancini FP, D'Angelo A, et al. Elevated total plasma homocysteine and 677C-T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease. Am J Hum Genet 1996; 59: 262-4.
37. Kang SS, Wong PW, Bock HG, Horwitz A, Grix A. Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations. Am J Hum Genet 1991; 48: 546-51.
38. Jacques PF, Bostom AG, Williams RR, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996; 93: 7-9.
39. Ueland PM, Refsum H, Stabler SP, Malinow MR, Andersson A, Allen RH. Total homocysteine in plasma or serum: methods and clinical applications. Clin Chem 1993; 39: 1764-79.
40. Wu LL, Wu J, Hunt SC, et al. Plasma homocyst(e)ine as a risk factor for early familial coronary artery disease. Clin Chem. 1994; 40: 552-61.
41. Boers GH, Smals AG, Trijbels FJ, Leermakers AI, Kloppenborg PW. Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years. J Clin Invest 1983; 72: 1971-6.
42. Van der Mooren MJ, Wouters MGAJ, Blom HJ, Schellekens LA, Eskes TKAB, Rolland R. Hormone replacement therapy may reduce high serum homocysteine in postmenopausal women. Eur J Clin Invest 1994; 24: 733-6.
43. Wouters MGAJ, Moorrees MTEC, Van der Mooren MJ, et al. Plasma homocysteine and menopausal status. Eur J Clin Invest 1995; 25: 801-5.
44. Andersson A, Hultberg B, Brattstrom L, Isaksson A. Decreased serum homocysteine in pregnancy. Eur J Clin Chem Clin Biochem 1992; 30: 377-9.
45. Ubbink JB. Vitamin nutrition status and homocysteine: an atherogenic risk factor. Nutr Rev 1994; 52: 383-93.
46. Kushi LH, Lenart EB, Willett WC. Health implications of Mediterranean diets in light of contemporary knowledge. 1. Plant foods and dairy products. Am J Clin Nutr 1995; 61: 1407S-15S.
47. Guttormsen AB, Schneede J, Fiskerstrand T, Ueland PM, Refsum HM. Plasma concentrations of homocysteine and other aminothiol compounds are related to food intake in healthy human subjects. J Nutr 1994; 124: 1934-41.
48. Alfthan G, Pekkanen J, Jauhiainen M, et al. Relation of serum homocysteine and lipoprotein(a) concentrations to atherosclerotic disease in a prospective Finnish population based study. Atherosclerosis 1994; 106: 9-19.
49. Glueck CJ, Shaw P, Lang JE, Tracy T, Sieve-Smith L, Wang Y. Evidence that homocysteine is an independent risk factor for atherosclerosis in hyperlipidemic patients. Am J Cardiol 1995; 75: 132-6.
50. Motulsky AG. Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am J Hum Genet 1996; 58: 17-20.
51. Frauscher G, Karnaukhova E, Muehl A, Hoeger H, Lubec B. Oral administration of homocysteine leads to increased plasma triglycerides and homocysteic acid-additional mechanisms in homocysteine induced endothelial damage? Life Sci 1995; 57: 813-17.
52. Cravo ML, Gloria LM, Selhub J, et al. Hyperhomocysteinemia in chronic alcoholism: correlation with folate, vitamin B-12, and vitamin B-6 status. Am J Clin Nutr 1996; 63: 220-4.
53. Stampfer MJ, Willett WC. Homocysteine and marginal vitamin deficiency. The importance of adequate vitamin intake. J Am Med Assoc 1993; 270: 2726-7.
54. Ubbink JB, Becker PJ, Vermaak WJH, Delport R. Results of B-vitamin supplementation study used in a prediction model to define a reference range for plasma homocysteine. Clin Chem 1995; 41: 1033-7.
55. Lindenbaum J, Rosenberg IH, Wilson PW, Stabler SP, Allen RH. Prevalence of cobalamin deficiency in the Framingham elderly population. Am J Clin Nutr 1994; 60: 2-11.
56. Nilsson K, Gustafson L, Faldt R, Andersson A, Hultberg B. Plasma homocysteine in relation to serum cobalamin and blood folate in a psychogeriatric population. Eur J Clin Invest 1994; 24: 600-6.
57. Joosten E, Pelemans W, Devos P, Lesaffre E, Goossens W, Criel A, Verhaeghe R. Cobalamin absorption and serum homocysteine and methylmalonic acid in elderly subjects with low serum cobalamin. Eur J Haematol 1993; 51: 25-30.
58. Selhub J, Jacques PF, Wilson PW, Rush D, Rosenberg IH. Vitamin status elderly population. J Am Med Assoc 1993; 270: 2693-8.
59. Brattstrom L, Lindgren A, Israelsson B, Andersson A, Hultberg B. Homocysteine and cysteine: determinants of plasma levels in middle-aged and elderly subjects. J Int Med 1994; 236: 633-41.
60. Pennypacker LC, Allen RH, Kelly JP, et al. High prevalence of cobalamin deficiency in elderly outpatients. J Am Geriat Soc 1992; 40: 1197-204.
61. Naurath HJ, Joosten E, Reizler R, Stabler SP, Allen RH, Lindenbaum J. Effects of vitamin B12, folate, and vitamin B6 supplements in elderly people with normal serum vitamin concentrations. Lancet 1995; 346: 85-9.
62. Pancharuniti N, Lewis CA, Sauberlich HE, et al. Plasma homocyst(e)ine, folate, and vitamin B-12 concentrations and risk for early-onset coronary artery disease. Am J Clin Nutr 1994; 59: 940-8.
63. Savage DG, Lindenbaum J, Stabler SP, Allen RH. Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies. Am J Med 1994; 96: 239-46.
64. Chadefaux B, Cooper BA, Gilfix BM, et al. Homocysteine: relationship to serum cobalamin, serum folate, erythrocyte folate, and lobation of neutrophils. Clin Invest Med 1994; 17: 540-50.
65. Carmel R. Pernicious anemia: the expected findings of very low serum cobalamin levels, anemia, and macrocytosis are often lacking. Arch Inter Med 1988; 148: 1712-14.
66. Beck WS. Diagnosis of megaloblastic anemia. Ann Rev Med 1991; 42: 311-22.
67. Anonymous. Guidelines on the investigation and diagnosis of cobalamin and folate deficiencies. A publication of the British Committee for Standards in Haematology. BCSH General Haematology Test Force. Clin Lab Haematol 1994; 16: 101-15.
68. Curtis D, Sparrow R, Brennan L, Van der Weyden MB. Elevated serum homocysteine as a predictor for vitamin B12 or folate deficiency. Eur J Haematol 1994; 52: 227-32.
69. Ubbink JB, Vermaak WJ, van der Merwe A, Becker PJ. Vitamin B-12, vitamin B-6, and folate nutritional status in men with hyperhomocysteinemia. Am J Clin Nutr 1993; 57: 47-53.
70. Ubbink JB, van der Merwe A, Vermaak WJ, Delport R. Hyperhomocysteinemia and the response to vitamin supplementation. Cli Invest 1993; 71: 993-8.
71. Franken DG, Boers GH, Blom HJ, Trijbels FJ, Kloppenborg PW. Treatment of mild hyperhomocysteinemia in vascular disease patients. Arterioscler Thromb 1994; 14: 465-70.
72. Stampfer MJ, Malinow MR. Can lowering homocysteine levels reduce cardiovascular risk? N Engl J Med 1995; 332: 328-9.
73. Hultberg B, Andersson A, Sterner G. Plasma homocysteine in renal failure. Clin Nephrol 1993; 40: 230-5.
74. Chauveau P, Chadefaux B, Coude M, Aupetit J, Hannedouche T, Kamoun P, Junges P. Hyperhomocysteinemia, a risk factor for atherosclerosis in chronic uremic patients. Kidney Internat Suppl 1993; 41: S72-7.
75. Hultberg B, Andersson A, Arnadottir M. Reduced, free and total fractions of homocysteine and other thiol compounds in plasma from patients with renal failure. Nephron 1995; 70: 62-7.
76. Janssen MJ, van den Berg M, van Guldener C, Boers GH, Stehouwer CD. Withdrawal of folic acid supplementation in maintenance hemodialysis patients. Clin Nephrol 1994; 42: 136-7.
77. Arnadottir M, Brattstrom L, Simonsen O, Thysell H, Hultberg B, Andersson A, Nilsson-Ehle P. The effect of high-dose pyridoxine and folic acid supplementation on serum lipid and plasma homocysteine concentrations in dialysis patients. Clin Nephrol 1993; 40: 236-40.
78. Janssen MJFM, van Guldener C, de Jong GMT, van den Berg M, Stehouwer CDA, Donker AJM. Folic acid treatment of hyperhomocysteinemia in dialysis patients. Miner Electrolyte Metab 1996; 22: 110-14.
79. Chauveau P, Chadefaux B, Coude M, Aupetit J, Kamoun P, Jungers P. Long-term folic acid (but not pyridoxine) supplementation lowers elevated plasma homocysteine level in chronic renal failure. Miner Electrolyte Metab 1996; 22: 106-9.
80. Baggott JE, Heimburger DC, Krumdieck CL, Butterworth Jr CE. Folate conjugase activity in the plasma and tumors of breast-cancer patients. Am J Clin Nutr 1987; 46: 295-301.
81. Bostom AG, Shemin D, Lapane KL, et al. High dose B-vitamin treatment of hyperhomocysteinemia in dialysis patients. Kidney Int 1996; 49: 147-152.
82. Bostom A, Brosnan JT, Hall B, Nadeau MR, Selhub J. Net uptake of plasma homocysteine by the rat kidney in vivo. Atherosclerosis 1995; 116: 59-62.
83. Arnadottir M, Hultberg B, Vladov V, Nilsson-Ehle P, Thysell H. Hyperhomocysteinemia in cyclosporintreated renal transplant recipients. Transplantation 1996; 61: 509-12.
84. Wilcken DEL, Gupta VJ, Betts AK. Homocysteine in the plasma of renal transplant recipients: effects of cofactors for methionine metabolism. Clin Sci 1981; 61: 743-9.
85. Berger PB, Jones JD, Olson LJ, et al. Increase in total plasma homocysteine concentration after cardiac transplantation. Mayo Clin Proc 1995; 70: 125-31.
86. Massy ZA, Chadefaux-Vekemans B, Chevalier A, et al. Hyperhomocysteinaemia: a significant risk factor for cardiovascular disease in renal transplant recipients. Nephrol Dial Transpl 1994; 9: 1103-8.
87. Malinow MR. Plasma homocyst(e)ine and arterial occlusive diseases: a mini-review. Clin Chem 1995; 41: 173-6.
88. Malinow MR. Hyperhomocyst(e)inemia: a common and easily reversible risk factor for occlusive atherosclerosis. Circulation 1990; 81: 2004-6.
89. Frohlich JJ. Lipoproteins and homocyst(e)ine as risk factors for atherosclerosis: assessment and treatment. Can J Cardiol 1995; 11(Suppl. C): 18C-23C.
90. Malinow MR. Homocyst(e)ine and arterial occlusive diseases. J Int Med 1994; 236: 603-17.
91. Fortin L-J, Genest JJ. Measurement of homocyst(e)ine in the prediction of arteriosclerosis. Clin Biochem 1995; 28: 155-62.
92. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits of increasing folic acid intakes. J Am Med Assoc 1995; 274: 1049-57.
93. Friedman JA, Dwyer JT. Hyperhomocysteinemia as a risk factor for cardiovascular disease in patients undergoing hemodialysis. Nutr Rev 1996; 53: 197-201.
94. Bachmann J, Tepel M, Zidek W, et al. Hyperhomocysteinemia and the risk for vascular disease in hemodialysis patients. J Am Soc Nephrol 1995; 6: 121-5.
95. Bostom AG, Shemin D, Lapane KL, et al. Hyperhomocysteinemia and traditional cardiovascular disease risk factors in end-stage renal disease patients on dialysis: a case-control study. Atherosclerosis 1995; 114: 93-103.
96. Selhub J, Jacques PF, Bostom AG, et al. Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis. N Engl J Med 1995; 332: 286-91.
97. Ubbink JB, Vermaak WJ, Bennett JM, Becker PJ, van Staden DA, Bissbort S. The prevalence of homocysteinemia and hypercholesterolemia in angiographically defined coronary heart disease. Klin Wochenschrift 1991; 69: 527-34.
98. Smithells RW, Seller MJ, Harris R, et al. Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet 1983; 1: 1027-31.
99. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council vitamin study. Lancet 1991; 338: 131-7.
100. Czeizel AE, Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992; 327: 1832-35.
101. Werler MM, Shapiro S, Mitchell AA. Periconceptional folic acid exposure and risk of occurrent neural tube defects. J Am Med Assoc 1993; 269: 1257-61.
102. Steegers-Theunissen RP, Smithells RW, Eskes TK. Update of new risk factors and prevention of neural-tube defects. Obstet Gynecol Surv 1993; 48: 287-93.
103. Burke G, Robinson K, Refsum H, Stuart B, Drumm J, Graham I. Intrauterine growth retardation, perinatal death, and maternal homocysteine levels. N Engl J Med 1992; 326: 69-70.
104. Wouters MG, Boers GH, Blom HJ, et al. Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril 1993; 60: 820-5.
105. Dekker GA, de Vries JIP, Doelitzsch PM, et al. Underlying disorders associated with severe early-onset preeclampsia. Am J Obstet Gynecol 1995; 173: 1042-8.
106. Steegers-Theunissen RP, Boers GH, Blom HJ, Trijbels FJ, Eskes TK. Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae. Lancet 1992; 339: 1122-3.
107. Mills JL, McPartlin JM, Kirke PN, et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 1995; 345: 149-51.
108. Steegers-Theunissen RP, Boers GH, Trijbels FJ, et al. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 1994; 43: 1475-80.
109. Steegers-Theunissen RP, Boers GH, Blom HJ, et al. Neural tube defects and elevated homocysteine levels in amniotic fluid. Am J Obstet Gynecol 1995; 172: 1436-41.
110. Shih VE, Mandell R, Sheinhait I. General metabolic screening tests. In: Techniques in diagnostic human biochemical genetics: A laboratory manual. Ed. Hommes FA, Pp. 45-68. New York: Wiley & Sons, 1991.
111. Applegarth DA, Vallance HD, Seccombe D. Are patients with homocystinuria being missed? Eur J Pediat 1995; 154: 589.
112. Guttormsen AB, Mansoor AM, Fiskerstrand T, Ueland PM, Refsum H. Kinetics of plasma homocysteine in healthy subjects after peroral homocysteine loading. Clin Chem 1993; 39: 1390-7.
113. Ueland PM. Homocysteine species as components of plasma redox thiol status. Clin Chem 1995; 41: 340-2.
114. Mansoor MA, Svardal AM, Ueland PM. Determination of the in vivo redox status of cysteine, cysteinylglycine, homocysteine, and glutathione in human plasma. Anal Biochem 1992; 200: 218-29.
115. Mansoor MA, Guttormsen AB, Fiskerstrand T, Refsum H, Ueland PM, Svardal AM. Redox status and protein binding of plasma aminothiols during the transient hyperhomocysteinemia that follows homocysteine administration. Clin Chem 1993; 39: 980-5.
116. Mansoor MA, Svardal AM, Schneede J, Ueland PM. Dynamic relation between reduced, oxidized, and protein-bound homocysteine and other thiol components in plasma during methionine loading in healthy men. Clin Chem 1992; 38: 1316-21.
117. Andersson A, Isaksson A, Brattstrom L, Hultberg B. Homocysteine and other thiols determined in plasma by HPLC and thiol-specific postcolumn derivatization. Clin Chem 1993; 39: 1590-7.
118. Vester B, Rasmussen K. High performance liquid chromatography method for rapid and accurate determination of homocysteine in plasma and serum. Eur J Clin Chem Clin Biochem 1991; 29: 549-54.
119. Ubbink JB, Hayward Vermaak WJ, Bissbort S. Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum. J Chromatog 1991; 565: 441-6.
120. Cornwell PE, Morgan SL, Vaughn WH. Modification of a high-performance liquid chromatographic method for assay of homocysteine in human plasma. J Chromatog 1993; 617: 136-9.
121. Evrovski J, Callaghan M, Cole DEC. Determination of homocysteine by HPLC with pulsed integrated amperometry. Clin Chem 1995; 41: 757-8.
122. Mamer OA, Gilfix BM, Rosenblatt DS, Cooper BA. Determination of homocysteine and methylmalonic acid in plasma in a single GC/MS run. Biochem RVH 1995; (In press).
123. Shipchandler M, Moore EG. Rapid, fully automated measurement of plasma homocyst(e)ine with the Abbott IMx analyzer. Clin Chem 1995; 41: 991-4.
124. Malinow MR, Axthelm MK, Meredith MJ, MacDonald NA, Upson BM. Synthesis and transsulfuration of homocysteine in blood. J Lab Clin Med 1994; 123: 421-9.
125. Andersson A, Isaksson A, Hultberg B. Homocysteine export from erythrocytes and its implication for plasma sampling. Clin Chem 1992; 38: 1311-15.
126. Moller J, Rasmussen K. Homocysteine in plasma: stabilization of blood samples with fluoride. Clin Chem 1995; 41: 758-9.
127. Abeles RH, Tashjian AHJ, Fish S. The mechanism of inactivation of s-adenosylhomocysteinase by 2′-deoxyadenosine. Biochem Biophys Res Comm 1980; 95: 612-17.
128. Helland S, Ueland PM. Inactivation of s-adenosylhomocysteine hydrolase by 9-β-D-arabinofuranosyladenine in intact cells. Cancer Res 1982; 42: 1130-6.
129. Helland S, Ueland PM. Effect of 2′-deoxycoformycin infusion on s-adenosylhomocysteine hydrolase and the amount of s-adenosylhomocysteine and related compounds in tissues of mice. Cancer Res 1983; 43: 4142-7.
130. Ubbink JB, Vermaak WJ, van der Merwe A, Becker PJ. The effect of blood sample aging and food consumption on plasma total homocysteine levels. Clin Chim Acta 1992; 207: 119-28.
131. Kozich V, Kraus E, de Franchis R, et al. Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level. Hum Mol Genet 1995; 4: 623-29.
132. Krumdieck CL, Eto I, Baggott JE. Regulatory role of oxidized and reduced pteroylpolyglutamates. Ann NY Acad Sci 1992; 669: 44-57.
133. Bostom AG, Roubenoff R, Dellaripa P, et al. Validation of abbreviated oral methionine-loading test. Clin Chem 1995; 41: 948-9.
134. Refsum H, Heiland S, Ueland PM. Fasting plasma homocysteine as a sensitive parameter of antifolate effect: a study of psoriasis patients receiving low-dose methotrexate treatment. Clin Pharmacol Ther 1989; 46: 510-20.
135. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 1995; 10: 111-13.
136. Shih VE, Fringer JM, Mandell R, et al. A missense mutation (11278T) in the cystathionine β-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Am J Hum Genet 1995; 57: 34-9.
137. Wilcken DEL, Wilcken B, Dudman NPB, Tyrrell PA. Homocystinuria - The effects of betaine in the treatment of patients not responsive to pyridoxine. N Engl J Med 1983; 309: 448-53.
138. Wendel U, Bremer HJ. Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediat 1984; 142: 147-50.
139. Vandeberg P, Johnson DC. Comparison of pulsed amperometric detection and integrated voltammetric detection for organic sulfur compounds in liquid chromatography. Anal Chim Acta 1994; 290: 317-27.