European Journal of Pediatrics

, Volume 157, Supplement 2, pp S131–S134 | Cite as

Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia

  • H. J. Blom


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.

Key words Hyperhomocysteinaemia Methylenetetrahydrofolate reductase Cystathionine β-synthase Vascular disease Neural tube defects 

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • H. J. Blom
    • 1
  1. 1.Department of Paediatrics University Hospital Nijmegen, P.O.Box 9101, 6500 HB Nijmegen, The Netherlands, e-mail:, Tel: +31 24 3613469, Fax: +31 24 3618900NL

Personalised recommendations