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 enzyme 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.