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Related Concept Videos

Vitamins01:30

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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The establishment of the oral microbiome begins before birth, challenging the long-held belief that the fetal oral cavity is sterile. The presence of oral microbes such as Streptococcus and Fusobacterium in amniotic fluid suggests that microbial exposure may occur in utero, potentially through translocation from the maternal oral or gastrointestinal tract. This early colonization primes the neonatal immune system and sets the stage for subsequent microbial succession. Maternal health,...

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Related Experiment Video

Updated: Jun 21, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Vitamin B(12) and birth defects.

Fei Li1, David Watkins, David S Rosenblatt

  • 1Department of Human Genetics, McGill University, Que., Canada.

Molecular Genetics and Metabolism
|July 10, 2009
PubMed
Summary

Vitamin B12 (cobalamin) deficiency is linked to birth defects, particularly neural tube defects, in both animal models and humans. Further research is needed to confirm if B12 fortification reduces these defects more than folic acid alone.

Area of Science:

  • Developmental Biology
  • Nutritional Science
  • Genetics

Background:

  • Vitamin B12 (cobalamin) plays a crucial role in cellular metabolism and development.
  • Disruptions in cobalamin absorption and metabolism are implicated in various developmental abnormalities.
  • Genetic factors influencing cobalamin pathways are essential for embryonic development.

Purpose of the Study:

  • To review the existing literature on the impact of vitamin B12 on development and birth defects.
  • To identify specific genetic and metabolic factors associated with vitamin B12 and their role in congenital anomalies.
  • To evaluate the potential of vitamin B12 fortification in preventing birth defects.

Main Methods:

  • Literature review of studies investigating vitamin B12, its metabolic pathways, and associated genetic factors.

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Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

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Published on: June 25, 2010

  • Analysis of animal models demonstrating the effects of disrupted cobalamin absorption and metabolism on development.
  • Examination of human epidemiological data linking maternal and embryonic vitamin B12 status to birth defect incidence.

    • Main Results:

    • Rodent models show that impaired cobalamin absorption leads to various defects, including neural tube defects.
    • Genetic mutations in genes crucial for cobalamin metabolism (CUBN, AMN, MTR, MTRR) are embryonic lethal or associated with increased defects in mice.
    • In humans, low maternal vitamin B12, reduced transcobalamin-bound cobalamin, elevated homocysteine/methylmalonic acid, and specific MTRR polymorphisms are linked to neural tube defects.

    Conclusions:

    • Vitamin B12 status and metabolism are critical for normal development and preventing birth defects.
    • Genetic variations in cobalamin-related genes significantly impact embryonic development.
    • Further prospective studies are warranted to assess the efficacy of vitamin B12 fortification in conjunction with folic acid for birth defect prevention.