Severe Methylenetetrahydrofolate Reductase Deficiency, Methionine Synthase, and Nitrous Oxide — A Cautionary Tale

2003 ◽  
Vol 349 (1) ◽  
pp. 5-6 ◽  
Author(s):  
Richard W. Erbe ◽  
Robbert J. Salis
Keyword(s):  
Nitrous Oxide ◽  
Methylenetetrahydrofolate Reductase ◽  
Methionine Synthase ◽  
Cautionary Tale ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency

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

2007 ◽  
Vol 45 (12) ◽  
Author(s):  
Rowena G. Matthews ◽  
C. Lee Elmore
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Minor Component ◽  
Methionine Synthase ◽  
Elevated Plasma ◽  
Wild Type ◽  
Reductase Deficiency ◽  
Methionine Synthase Reductase ◽  
A Minor ◽  
Methylenetetrahydrofolate Reductase Deficiency ◽  
Genetic Mouse Models

AbstractThere 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.

Methylenetetrahydrofolate reductase deficiency: therapy and outcome (with video)

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
C Thiels ◽  
K Weigt-Usinger ◽  
S Kölker ◽  
N Janzen ◽  
M Baumgartner ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

1993 ◽  
Vol 45 (5) ◽  
pp. 572-576 ◽  
Author(s):  
J. C. Haworth ◽  
L. A. Dilling ◽  
R. A. H. Surtees ◽  
L. E. Seargeant ◽  
H. Lue-Shing ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency

Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency

2015 ◽  
Vol 37 (1) ◽  
pp. 168-170 ◽  
Author(s):  
Tatiana Munoz ◽  
Jinesh Patel ◽  
Ramses Badilla-Porras ◽  
Jonathan Kronick ◽  
Saadet Mercimek-Mahmutoglu
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Severe Scoliosis ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency
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