Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening
- 73 Downloads
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 wordsVitamin B12 Methylmalonic aciduria Newborn screening Cobalamin
Unable to display preview. Download preview PDF.
- 1.Auray-Blais C, Giguère R, Ogier H, Laframboise R, Clow C, Lemieux B (1989) Methylmalonic aciduria: a high incidence of cases detected in the province of Quebec from one million analyses. In: Schmidt BJ (ed) Current trends in infant screening. Elsevier, Amsterdam, pp 197–203Google Scholar
- 2.Baker SJ, Jacob E, Rajan KT, Swaminathan SP (1962) Vitamin B12 deficiency in pregnancy and the puerperium. BMJ 16: 1658–1661Google Scholar
- 7.Heaton D (1979) Another case of megaloblastic anemia of infancy due to maternal pernicious anemia. N Engl J Med 300: 202–203Google Scholar
- 11.Jadhav M, Weeb JKG, Vaishnava S, Baker SJ (1962) Vitamin B12 deficiency in infants: a clinical syndrome. Lancet II:903–907Google Scholar
- 15.Luhby AL, Cooperman JM, Stone ML, Slobody LB (1961) Physiology of vitamin B12 in pregnancy, the placenta and the newborn. Am J Dis Child 102:753–754Google Scholar
- 19.Sadowitz PD, Livingston A, Cavanaugh RM (1986) Developmental regression as an early manifestation of vitamin B12 deficiency. Clin Pediatr 25:369–371Google Scholar
- 21.Sklar R (1986) Nutritional vitamin B12 deficiency in a breastfed infant of a vegan-diet mother. Clin Pediatr 25:219–221Google Scholar