European Journal of Pediatrics

, Volume 151, Issue 3, pp 218–220 | Cite as

Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening

  • J. L. Michaud
  • B. Lemieux
  • H. Ogier
  • M. A. Lambert


We describe two asymptomatic newborns with nutritional vitamin B12 deficiency in whom increased urinary methylmalonic acid was detected by routine neonatal screening at 3 weeks of age. Both infants were exclusively breast-fed. One mother suffered from pernicious anaemia, and the other was a strict vegetarian. Both mothers had no clinical or haematological abnormality, aside from a borderline mean corpuscular volume for the vegetarian mother. This report illustrates the early appearance of functional vitamin B12 deficiency in breastfed infants of vitamin B12-depleted mothers. It also demonstrates that urinary methylmalonic acid measurement is a sensitive indicator of tissue vitamin B12 deficiency.

Key words

Vitamin B12 Methylmalonic aciduria Newborn screening Cobalamin 



Methylmalonic acid


thin-layer chromatography


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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • J. L. Michaud
    • 1
  • B. Lemieux
    • 2
  • H. Ogier
    • 1
  • M. A. Lambert
    • 1
  1. 1.Genetics Service, Department of PaediatricsHôpital Sainte-JustineMontréalCanada
  2. 2.Department of PaediatricsUniversity of Sherbrooke Medical CenterSherbrookeCanada

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