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Updated: May 16, 2026
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
Genetic defects in folate and cobalamin pathways affecting the brain
Susanne H Kirsch1, Wolfgang Herrmann, Rima Obeid
1Department of Clinical Chemistry and Laboratory Medicine, University Hospital of Saarland, Homburg, Germany.
Clinical Chemistry and Laboratory Medicine
|November 28, 2012
Summary
Folate and cobalamin are vital for brain development and function. Early detection and B vitamin supplementation can prevent or reverse serious health issues caused by inherited pathway disorders.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Folate and cobalamin are essential for early brain development and function.
- Deficiencies can lead to severe central nervous system malformations, anemia, failure to thrive, infections, and neurological symptoms.
Purpose of the Study:
- To review inherited disorders affecting folate and cobalamin pathways.
- To highlight the importance of early diagnosis and treatment.
Main Methods:
- Review of selected inherited disorders affecting folate and cobalamin metabolism.
- Discussion of mutations impacting nutrient absorption, transport, and enzyme function.
Main Results:
- Inherited disorders in folate and cobalamin pathways share similarities but differ in molecular mechanisms and management.
- Early diagnosis of mutations allows for effective treatment with B vitamin supplementation.
Conclusions:
- Many folate and cobalamin pathway disorders are treatable with B vitamin supplementation if identified early.
- Early screening for mutations is recommended upon symptom onset or detection of elevated homocysteine and/or methylmalonic acid.
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