Genetic test for folate metabolism

This test analyzes genes that affect the absorption of folic acid (vitamin B9) and its conversion to the active form (5-MTHF). It helps to identify congenital disorders that prevent the body from properly using folate, even with sufficient intake from food.

What genes are being tested?

1. MTHFR (C677T and A1298C) – most important:

• Mutation C677T reduces the activity of the enzymeEnzymes are proteins that accelerate chemical reactions in the body. They ensure the occurrence of metabolic processes such as food digestion, energy release, cell formation, and many others. by 70%, which leads to the accumulation of homocysteine.
• A1298C causes less severe disorders.

1. MTR and MTRR -affect the remethylation of homocysteine.
2. DHFR -responsible for folic acid recovery.

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Why do I need this test?

1. Risk assessment:

• Thrombosis (due to increased homocysteine).
• Pregnancy complications (miscarriages, neural tube defects in the fetus).
• Depression, dementia (impaired neurotransmitter synthesis).
• Anemia (megaloblastic due to hematopoietic defects).

1. Personalization of treatment:

• Selection of the folate form (regular folic acid may not be absorbed with MTHFR mutations).
• Dosage of vitamins B12, B6 and B9 to reduce homocysteine.

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Symptoms of folate deficiency

They occur due to a violation of DNA synthesis and an excess of homocysteine:

• General information: weakness, pallor, dizziness.
• Neurological: irritability, depression, cognitive impairment.
• Hematological: megaloblastic anemia (large immature red blood cells).
• Pregnancy: malformations of the fetus (spina bifida, anencephaly).
• Cardiovascular diseases: early atherosclerosis, thrombosis.

Risk groups:

• People with a family history of thrombosis or miscarriage.
• Vegans (B12 deficiency worsens folate deficiency).
• Patients with autoimmune diseases (celiac disease, Crohn’s disease).

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Symptoms of excess folate

Rare, but possible with an overdose of synthetic folic acid:

• Masking B12 deficiency (folic acid ‘corrects’ anemia, but does not stop nerve damage).
• Allergic reactions (skin rash, itching).
• Increased excitability of the central nervous system (insomnia, irritability).
• Growth of tumors (theoretical risk for pre-existing neoplasms).

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Blood folate levels

Analysis for folate is performed in serum or red blood cells (a more accurate indicator).

For MTHFR mutations:

• Folate levels may be normal, but homocysteine levels are elevated (>10-15 mmol / l).
• Red blood cell folate is a more reliable marker than serum folate.

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What should I do if mutations are detected?

1. Replace folic acid with methylated forms:

• 5-MTHF (methylfolate) – is absorbed even with the MTHFR mutation.
• Dosage: 400-1000 mcg / day (for pregnancy up to 5 mg).

1. Combine with vitamins B12 and B6:

• B12 (methylcobalamin) – 500-1000 mcg / day.
• B6 (pyridoxal-5-phosphate) – 25-50 mg / day.

1. Control homocysteine:

• Target level: <7-8 mmol/l.

1. Diet:

• Leafy greens (spinach, arugula).
• Liver, eggs, and legumes.
• Avocado, citrus fruits.

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Example of a genetic report

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Conclusion

• A genetic test reveals the risk of folate metabolism disorders leading to increased homocysteine.
• The deficiency is manifested by anemia, neurological and obstetric complications.
• Excess is possible only when taking synthetic forms.
• Folate norms: 7-45 nmol/l in serum, homocysteine <8 mmol/l.
• Treatment: methylfolate + B12 + B6 under the control of assays.

The test is especially important for those planning pregnancy and patients with a history of thrombosis.