Мать и дитя в Кузбассе (Aug 2024)

VIOLATION OF FOLATE METABOLISM AS A POSSIBLE CAUSE OF PREGNANCY LOSS. A CLINICAL CASE

  • Эльвира Константиновна Гребенникова,
  • Сергей Васильевич Гребенников,
  • Марина Яковлевна Домрачева,
  • Татьяна Алексеевна Соколова-Попова,
  • Наталья Михайловна Яметова,
  • Ольга Александровна Домрачева,
  • Анна Сергеевна Вишневская

Journal volume & issue
Vol. 25, no. 3
pp. 99 – 104

Abstract

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The article describes a case of successfully reversing folate metabolism disorders in a patient with genetic mutations in the folate cycle genes MTHFR and MTRR, and multiple developmental defects in fetuses (spina bifida) during their history. Folate deficiency increases the risk of pregnancy complications, miscarriage and fetal malformations. The use of standard folic acid dosages proved ineffective, and the fetus developed spina bifida. The formation of developmental defects in the fetus was prevented by increasing the recommended dosage of folic acid.

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