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Vitamin B12 Deficiency Newborn Screening

Ulrike Mütze1, Florian Gleich1, Dorothea Haas1

  • 1Divisions of Child Neurology and Metabolic Medicine.

Pediatrics
|July 23, 2024
PubMed

Insights

Newborn screening for Vitamin B12 deficiency (VitB12D) significantly reduces the risk of infants developing symptomatic conditions. Early detection through NBS prevents neurodevelopmental impairment in newborns.

Area of Science:

  • Pediatric Neurology
  • Neonatal Screening
  • Nutritional Deficiencies

Background:

  • Vitamin B12 deficiency (VitB12D) can cause neurodevelopmental impairment in infants.
  • Newborn screening (NBS) for VitB12D is feasible and allows for favorable early treatment outcomes.
  • Evaluating the impact of NBS on preventing symptomatic infantile VitB12D is crucial.

Purpose of the Study:

  • To assess the effectiveness of newborn screening (NBS) in preventing symptomatic Vitamin B12 deficiency (VitB12D) in infants.
  • To compare the incidence of symptomatic VitB12D in infants with and without NBS.

Main Methods:

  • A nationwide surveillance study in Germany prospectively collected incident cases of VitB12D in infants under 12 months.
  • Data were gathered from 2021 to 2022 in cooperation with the German Pediatric Surveillance Unit.
  • Cases were analyzed based on identification through NBS versus diagnosis after symptom onset.

Main Results:

  • 61 cases of VitB12D were analyzed; 31 were identified by NBS and 30 diagnosed after symptoms.
  • Infants identified by NBS were predominantly asymptomatic (90%), while the non-NBS group presented with hypotonia, anemia, and developmental delay.
  • Symptomatic VitB12D was diagnosed 4 times more frequently in infants without NBS (OR 4.12, P = .008).

Conclusions:

  • Newborn screening for Vitamin B12 deficiency significantly reduces the risk of infants developing symptomatic disease.
  • NBS for neonatal VitB12D may lead to a fourfold risk reduction in symptomatic cases within the first year of life.
  • Early detection and intervention through NBS are vital for preventing adverse neurodevelopmental outcomes in infants.
Abstract

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