What is homocysteinemia?

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

Answer

Homocysteinemia, a separate but related entity, is defined as elevation of the homocysteine level in blood. This condition has also been referred to as homocyst(e)inemia to reflect metabolites that may accumulate. A mild elevation of plasma homocysteine may exist without homocystinuria.

Homocysteinemia may be due to a genetic predisposition to abnormal activity in the same pathways as homocystinuria. Nutritional and environmental factors, as well as specific medications, may worsen this abnormality and provoke symptoms.


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