- homocysteine is produced by the demethylation of methionine, an essential amino acid
- homocystinuria - due to a lack of the enzyme cystathione- beta-synthase which usually convert methionine to cystathione. This results in accumulation of the metabolic intermediates homocysteine and homocystine (referred to as homocyst(e)ine). Homocystine is excreted in the urine
- homocystinuria is associated with a high risk of thromboembolic events including stroke and myocardial infarction in early adolescence or even in childhood
- recent evidence suggests that moderately elevated homocysteine plasma levels (moderate hyperhomocysteinaemia) are common in the general population - see menu item
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