Case Scenario Jean is a 34 year-old woman who is pregnant for the first time. Sh

Question

Case Scenario

Jean is a 34 year-old woman who is pregnant for the first time. She has a sister who had spina bifida and an older brother who had a stroke when he was 14. Jean has tested positive for presence of a genetic defect known as 677C>T in the methylene-tetrahydrofolate reductase (MTHFR). She is worried about using the traditional prenatal vitamin-mineral supplement because she has been cautioned that she is unable to metabolize folic acid from diet and supplements. She is asking for your advice for a successful pregnancy.
Nutrition Diagnostic Statement
Altered nutrient (folic acid) metabolism related to a genetic alteration as evidenced by positive results for 677 C>T in the MTHFR gene and having a family history of spina bifida and stroke. Nutrition Care Questions

Write a short scientific statement to describe what this genetic defect means in relation to

folate, folic acid, and vitamin B12 metabolism.

Explanation / Answer

This defect causes higher levels of homocysteine in the plasma. In the absence of which homocysteine is not converted to methionine. Methylenetetrahydrofolate reductase plays an important role in processing amino acids. They catalyze the reaction which converts 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate and help in synthesis of vitamin folate.

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