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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 Nov;63(5):1541–1543.

Measurement and use of total plasma homocysteine. American Society of Human Genetics/American College of Medical Genetics Test and Transfer Committee Working Group.

PMCID: PMC1377563  PMID: 9792881

Abstract

Hyperhomocysteinemia, which is a recognized independent risk factor for premature vascular occlusion, is defined as a fasting total plasma homocysteine (tHcy) level >15 microM. There may also be graded increased risks for persons with tHcy concentrations of 10-15 microM. The measurement of tHcy requires precise sample collection, immediate separation and freezing of plasma, and referral to a specialized laboratory. The etiologies of hyperhomocysteinemia are complex and involve both genetic and environmental factors. Because the inappropriate supplementation of involved cofactors can be harmful, it is important to identify the cause of hyperhomocysteinemia prior to treatment.

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Selected References

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  1. Araki A., Sako Y. Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection. J Chromatogr. 1987 Nov 27;422:43–52. doi: 10.1016/0378-4347(87)80438-3. [DOI] [PubMed] [Google Scholar]
  2. Boushey C. J., Beresford S. A., Omenn G. S., Motulsky A. G. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA. 1995 Oct 4;274(13):1049–1057. doi: 10.1001/jama.1995.03530130055028. [DOI] [PubMed] [Google Scholar]
  3. Jacobsen D. W., Gatautis V. J., Green R. Determination of plasma homocysteine by high-performance liquid chromatography with fluorescence detection. Anal Biochem. 1989 Apr;178(1):208–214. doi: 10.1016/0003-2697(89)90381-3. [DOI] [PubMed] [Google Scholar]
  4. Jacobsen D. W., Gatautis V. J., Green R., Robinson K., Savon S. R., Secic M., Ji J., Otto J. M., Taylor L. M., Jr Rapid HPLC determination of total homocysteine and other thiols in serum and plasma: sex differences and correlation with cobalamin and folate concentrations in healthy subjects. Clin Chem. 1994 Jun;40(6):873–881. [PubMed] [Google Scholar]
  5. Nygård O., Vollset S. E., Refsum H., Stensvold I., Tverdal A., Nordrehaug J. E., Ueland M., Kvåle G. Total plasma homocysteine and cardiovascular risk profile. The Hordaland Homocysteine Study. JAMA. 1995 Nov 15;274(19):1526–1533. doi: 10.1001/jama.1995.03530190040032. [DOI] [PubMed] [Google Scholar]
  6. Savage D. G., Lindenbaum J. Neurological complications of acquired cobalamin deficiency: clinical aspects. Baillieres Clin Haematol. 1995 Sep;8(3):657–678. doi: 10.1016/s0950-3536(05)80225-2. [DOI] [PubMed] [Google Scholar]
  7. Stabler S. P., Lindenbaum J., Savage D. G., Allen R. H. Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood. 1993 Jun 15;81(12):3404–3413. [PubMed] [Google Scholar]
  8. Stabler S. P., Marcell P. D., Podell E. R., Allen R. H. Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectrometry. Anal Biochem. 1987 Apr;162(1):185–196. doi: 10.1016/0003-2697(87)90026-1. [DOI] [PubMed] [Google Scholar]
  9. Stampfer M. J., Malinow M. R., Willett W. C., Newcomer L. M., Upson B., Ullmann D., Tishler P. V., Hennekens C. H. A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians. JAMA. 1992 Aug 19;268(7):877–881. [PubMed] [Google Scholar]
  10. Ueland P. M., Refsum H., Stabler S. P., Malinow M. R., Andersson A., Allen R. H. Total homocysteine in plasma or serum: methods and clinical applications. Clin Chem. 1993 Sep;39(9):1764–1779. [PubMed] [Google Scholar]

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