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Treatment

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Patients may respond to treatment with vitamin B6 in doses of up to 500 mg/day. It may be necessary to add supplements of folate and vitamin B12.

If homocysteine levels do not fall then restriction of dietary methionine to 10-40 mg per day may be required.

The conversion of homocysteine back to methionine may be promoted by giving betaine or choline.

 

Reference

  1. Dawson C et al. Homocystinuria diagnosis and management: it is not all classical. Journal of Clinical Pathology. Volume 75, Issue 11. Sept 2022

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