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Updated: Aug 30, 2026

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

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Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion

M Horstmann1, E Neumaier-Probst, Z Lukacs

  • 1Children's Hospital, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. horstman@uke.uni-hamburg.de

Neuropediatrics
|November 5, 2003
PubMed

Insights

Maternal vitamin B12 malabsorption caused cobalamin depletion in an infant, leading to severe encephalopathy and brain volume loss. This case highlights vitamin B12

Area of Science:

  • Neuroscience
  • Pediatric Neurology
  • Biochemistry

Background:

  • Cobalamin (vitamin B12) is crucial for neurological development and function.
  • Maternal vitamin B12 deficiency can impact exclusively breast-fed infants.
  • Encephalopathy and myelination disorders require thorough investigation.

Observation:

  • An exclusively breast-fed infant presented with intermittent vigilance and movement disorder.
  • The infant exhibited severe encephalopathy with brain volume loss and delayed myelination.
  • Magnetic resonance spectroscopy revealed lactate accumulation and choline depletion in the brain.

Findings:

  • The infant's condition was attributed to cobalamin depletion secondary to maternal vitamin B12 malabsorption.
  • Proton magnetic resonance spectroscopy indicated a disturbance in oxidative energy metabolism and hypomyelination.
  • These findings suggest a reversible metabolic disruption and a long-lasting hypomyelination disorder.

Implications:

  • This case underscores the critical role of cobalamin in infant brain metabolism and myelination.
  • It provides insights into the neurological consequences of vitamin B12 deficiency in early life.
  • Early diagnosis and intervention for maternal vitamin B12 malabsorption are vital for infant neurological health.

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