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Bio B2BSofiva Genomics 〉Folate Metabolism Genetic Testing

Folate Metabolism Genetic Testing

Folate Metabolism Genetic Testing

Pregnant Women Need More Folic Acid Than the Average Adult. Mutations in the MTHFR gene affect the absorption of folic acid, which can lead to folate deficiency.

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Overview
According to the Health Promotion Administration of the Ministry of Health and Welfare in Taiwan, the recommended daily intake of folic acid for adults, pregnant mothers, and breastfeeding mothers is 0.4 mg, 0.8mg, and 0.5 mg, respectively.

Folic Acid is Closely Related to the MTHFR Gene
The MTHFR gene is located at p36.3 on chromosome 1. When food containing folic acid is ingested, the MTHFR enzyme converts that folic acid into a form that our bodies can absorb. The MTHFR enzyme is produced by the MTHFR gene and therefore also participates in other metabolic reactions. Mutations in the MTHFR gene affect the ability of the human body to absorb folic acid and cause the concentration of homocysteine in blood to rise. This increases the risk of cardiovascular diseases and megaloblastic anemia in adults and also affects fetal neural tube development.

Mutations in the MTHFR gene affect the absorption of folic acid, which can lead to folate deficiency. If expecting mothers are not absorbing enough folic acid, they will likely feel tired and dizzy or display shortness of breath. A lack of folic acid can also lead to[A1]  anemia and increase the chance of miscarriage or premature birth.
 
A lack of folic acid in early pregnancy can cause fetal neural tube defects and affect development of the brain and spine, which can in-turn lead to congenital malformations such as neonatal spina bifida, anencephaly, and hydrocephalus. Milder conditions include bladder disorders, gastrointestinal disorders, and leg paralysis; whereas the most severe outcome is death soon after birth.

 
Specifications
Folic Acid is Closely Related to the MTHFR Gene

The MTHFR gene is situated at p36.3 on chromosome 1. When food containing folic acid is ingested, the MTHFR enzyme converts that folic acid into a form that our bodies can absorb. The MTHFR enzyme is produced by the MTHFR gene and therefore also participates in other metabolic reactions. Mutations in the MTHFR gene affect the ability of the human body to absorb folic acid and cause the concentration of homocysteine in blood to rise. This increases the risk of cardiovascular diseases and megaloblastic anemia in adults and also affects fetal neural tube development.
 
At present, more than 40 types of MTHFR mutations have been clinically identified. The most common mutation involves the 677th nucleotide, which transforms C into T and affects folate metabolism.
 
Application
  • Women who plan to have children or women undergoing prenatal health checkups
  • Women who have previously given birth to babies with neural tube defects
  • Women that have experienced recurrent miscarriage
  • Women with a family history of cardiovascular disease
  • Women with a history of anemia
  • Individuals who are interested in learning more about their medical condition
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