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Pathology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Homocystinuria is 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.

It is the homocyst(e)ine which causes the complications of homocystinuria.

 

Reference

  1. Jakubowski H. The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease. J Physiol Pharmacol 2008;59 Suppl 9:155–67

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