ISSN:
1432-1076
Keywords:
Key words Hyperhomocysteinaemia
;
Methylenetetrahydrofolate reductase
;
Cystathionine β-synthase
;
Vascular disease
;
Neural tube defects
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Moderate hyperhomocysteinaemia (MHH) is a risk factor for arteriosclerosis and thrombosis. About 10%–20% of the normal population have homocysteine levels contributing to an increased risk for arterial and venous disease. Main regulating enzymes of homocysteine metabolism are cystathionine β-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR). Heterozygosity for CBS deficiency is most likely not an important cause for MHH in vascular disease. A recently discovered cause of MHH is reduced MTHFR activity due to a homozygous C677T mutation in the coding region of MTHFR. This mutation has been related to an increased risk for cardiovascular disease, although a number of studies are not confirmative. The elevated homocysteine levels due to this mutation can be normalized by administration of vitamins involved in homocysteine metabolism, in particular folate.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/PL00014297
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