How is homocystinuria treated?

Updated: Jul 27, 2018
  • Author: Pitchaiah Mandava, MD, PhD; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

Answer

Pyridoxine, at a dose of 100-500 mg/d, is the drug of choice.

Patients may be divided into pyridoxine-sensitive and pyridoxine-insensitive groups. In the first group, pyridoxine, folic acid, and vitamin B-12 are prescribed. These 3 vitamins, in combination, reduce the homocysteine levels as well as provide clinical benefit. Secondary stroke prevention rests on risk factor reduction. Aspirin, clopidogrel, and aspirin-dipyridamole have been suggested for secondary stroke prophylaxis, but whether other antiplatelet agents or anticoagulation are equally or more effective is not known.

Measuring homocystine levels can be used to monitor the effectiveness of treatment. If pyridoxine alone is not effective, folic acid and vitamin B-12 can be added to the regimen.

If patients are pyridoxine insensitive, a low-methionine diet initiated at diagnosis, along with betaine supplementation, may help reduce homocysteine levels. [10]


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