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Homocystinuria (pyridoxine unresponsive; HCU)

The test used to screen for HCU is methionine, which is measured by tandem mass spectrometry. Total homocysteine is used as a second line test.

Initial clinical investigation, follow-up and treatment are carried out by the metabolic team at RMCH.

In the case of a positive HCU result on screening, the specialist metabolic nurse will telephone the relevant community midwife with instructions on how to proceed and will organise an appointment at RMCH for the following working day.

Diagnostic testing includes blood amino acid analysis. Liver disease and parenteral nutrition may cause elevated methionine results. Early metabolic screening is not required for this condition.