Investigations
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
- 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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