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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Defects in homocysteine metabolism: diversity among hyperhomocyst(e)inemias

Rowena G. Matthews1 / C. Lee Elmore2

1Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA and Department of Biological Chemistry, University of Michigan, Ann Arbor, MI, USA

2Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA

Corresponding author: Professor Dr. Rowena G. Matthews, 4002 Life Sciences Institute, University of Michigan, 210 Washtenaw Avenue, Ann Arbor, MI 48109-2216, USA Phone: +1-734-764-9459, Fax: +1-734-763-6492,

Citation Information: Clinical Chemical Laboratory Medicine. Volume 45, Issue 12, Pages 1700–1703, ISSN (Online) 14374331, ISSN (Print) 14346621, DOI: https://doi.org/10.1515/CCLM.2007.324, December 2007

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There are now four genetic mouse models that induce hyperhomocyst(e)inemia by decreasing the activity of an enzyme involved in homocysteine metabolism: cystathionine β-synthase, methylenetetrahydrofolate reductase, methionine synthase and methionine synthase reductase. While each enzyme deficiency leads to murine hyperhomocyst(e)inemia, the accompanying metabolic profiles are significantly and often unexpectedly, different. Deficiencies in cystathionine β-synthase lead to elevated plasma methionine, while deficiencies of the remaining three enzymes lead to hypomethioninemia. The liver [S-adenosylmethionine]/[S-adenosylhomocysteine] ratio is decreased in mice lacking methylenetetrahydrofolate reductase or cystathionine β-synthase, but unexpectedly increased in mice with deficiencies in methionine synthase or methionine synthase reductase. Folate pool imbalances are observed in complete methylenetetrahydrofolate reductase deficiency, where methyltetra-hydrofolate is a minor component, and in methionine synthase reductase deficiency, where methyltetrahydrofolate is increased relative to wild-type mice. These differences illustrate the potential diversity among human patients with hyperhomocyst(e)inemia, and strengthen the argument that the pathologies associated with the dissimilar forms of the condition will require different treatments.

Clin Chem Lab Med 2007;45:1700–3.

Keywords: adenosylhomocysteine; adenosylmethionine; cystathionine β-synthase; folate; genetic mouse models; homocysteine; methionine synthase; methionine synthase reductase; methylenetetrahydrofolate reductase

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