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Updated: Jan 11, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

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Maternal cobalamin deficiency causing infantile seizures and developmental regression

Nadav Weinstock1, Jacqueline Wood2, Emily DeBoy3

  • 1Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA nweinst5@jh.edu.

BMJ Case Reports
|November 12, 2025
PubMed

Insights

Maternal pernicious anemia caused vitamin B12 deficiency in an infant, leading to failure to thrive and seizures. Prompt vitamin B12 repletion corrected metabolic issues and improved neurological symptoms.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Nutritional Deficiencies

Background:

  • An 11-month-old boy presented with failure to thrive, seizures, developmental regression, and oral lesions.
  • Metabolic derangements including elevated propionylcarnitine, homocysteine, and methylmalonic acid were observed.

Purpose of the Study:

  • To investigate the cause of unexplained neurological and metabolic symptoms in an infant.
  • To determine the role of cobalamin (vitamin B12) metabolism in the infant's condition.

Main Methods:

  • Rapid whole exome sequencing (WES) and metabolic studies were performed.
  • Evaluation included assessment of infant's and mother's vitamin B12 levels and autoantibodies.

Main Results:

  • Infant's WES revealed no pathogenic variants in cobalamin metabolism genes.
  • Maternal vitamin B12 was undetectable; she was diagnosed with pernicious anemia.
  • Infant showed complete metabolic correction and neurological improvement after vitamin B12 repletion.

Conclusions:

  • Maternal vitamin B12 deficiency due to pernicious anemia can manifest as severe metabolic and neurological disease in infants.
  • Early diagnosis and treatment with vitamin B12 are crucial for favorable outcomes in affected infants.

Keywords:
Childhood nutritionDevelopmental paediatrocsEpilepsy and seizuresGeneticsVitamins and supplements

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