Tags

Type your tag names separated by a space and hit enter

Hyperhomocysteinaemia.

Abstract

Homocysteine is a sulphur-containing amino acid that is derived primarily from protein of animal origin. Classical homocystinuria is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to skeletal abnormalities, mental retardation and a high risk of vascular disease. In contrast, moderate hyperhomocysteinaemia is associated with an increased risk of both arterial and venous thrombotic disease but no other abnormalities. This increased risk appears to be independent of other conventional risk factors. Many cases of hyperhomocysteineaemia have been attributed to defects in the enzyme cystathionine-beta-synthase (CBS) but this accounts for less than 1.5% of cases. A thermolabile variant of the enzyme methylenetetrahydrofolate reductase (MTHFR) arises from a C --> T transition at nucleotide 677 in the MTHFR gene resulting in an alanine-to-valine substitution. While the mutation does not appear to be associated with an increased risk of vascular disease, it results in excessively high homocysteine levels in response to a low or low-normal serum folate. Supplementation of the diet with folate, B6 and B12 can reduce homocysteine levels and this is the mainstay of treatment. Supplementation of grain with folate is undertaken in the USA to reduce the risk of neural tube defects in pregnant women. However, by reducing plasma homocysteine levels, it is estimated that this will save up to 50,000 lives per annum.

Authors+Show Affiliations

Haemophilia Centre, Department of Haematology, Royal Free & University College Medical School, London, UK.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

10856981

Citation

Perry, D J.. "Hyperhomocysteinaemia." Bailliere's Best Practice & Research. Clinical Haematology, vol. 12, no. 3, 1999, pp. 451-77.
Perry DJ. Hyperhomocysteinaemia. Baillieres Best Pract Res Clin Haematol. 1999;12(3):451-77.
Perry, D. J. (1999). Hyperhomocysteinaemia. Bailliere's Best Practice & Research. Clinical Haematology, 12(3), pp. 451-77.
Perry DJ. Hyperhomocysteinaemia. Baillieres Best Pract Res Clin Haematol. 1999;12(3):451-77. PubMed PMID: 10856981.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hyperhomocysteinaemia. A1 - Perry,D J, PY - 2000/6/17/pubmed PY - 2000/7/15/medline PY - 2000/6/17/entrez SP - 451 EP - 77 JF - Bailliere's best practice & research. Clinical haematology JO - Baillieres Best Pract. Res. Clin. Haematol. VL - 12 IS - 3 N2 - Homocysteine is a sulphur-containing amino acid that is derived primarily from protein of animal origin. Classical homocystinuria is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to skeletal abnormalities, mental retardation and a high risk of vascular disease. In contrast, moderate hyperhomocysteinaemia is associated with an increased risk of both arterial and venous thrombotic disease but no other abnormalities. This increased risk appears to be independent of other conventional risk factors. Many cases of hyperhomocysteineaemia have been attributed to defects in the enzyme cystathionine-beta-synthase (CBS) but this accounts for less than 1.5% of cases. A thermolabile variant of the enzyme methylenetetrahydrofolate reductase (MTHFR) arises from a C --> T transition at nucleotide 677 in the MTHFR gene resulting in an alanine-to-valine substitution. While the mutation does not appear to be associated with an increased risk of vascular disease, it results in excessively high homocysteine levels in response to a low or low-normal serum folate. Supplementation of the diet with folate, B6 and B12 can reduce homocysteine levels and this is the mainstay of treatment. Supplementation of grain with folate is undertaken in the USA to reduce the risk of neural tube defects in pregnant women. However, by reducing plasma homocysteine levels, it is estimated that this will save up to 50,000 lives per annum. UR - https://www.unboundmedicine.com/medline/citation/10856981/Hyperhomocysteinaemia_ DB - PRIME DP - Unbound Medicine ER -