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Investigations

Authoring team

Investigations:

  • plasma methionine and homocystine levels are elevated
  • homocystine is excreted in the urine
  • plasma cystine levels are reduced
  • positive urine cyanide-nitroprusside test

Urine or serum samples should be rapidly deproteinised prevent the formation of disulphide bonds between proteins and homocyst(e)ine.

Reference

  1. Moat SJ et al. Recommended approaches for the laboratory measurement of homocysteine in the diagnosis and monitoring of patients with hyperhomocysteinaemia. Ann Clin Biochem 1999;36:372–9

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