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Acquired Vitamin B12 Deficiency in Infancy

Vitamin B12 deficiency can be acquired in infants secondary to exclusive breastfeeding in deficient mothers. In this series of seven infants with acquired vitamin B12 deficiency, clinical features included developmental impairment/regression, faltering growth, feeding difficulties, somnolence, irritability, microcephaly, seizures, and abnormalities on brain magnetic resonance imaging. All had methylmalonic aciduria, other investigation findings were low serum cobalamin and hyperhomocysteinemia. Treatment brought about improvement in growth, behavior, and development; however, development remained impaired in some. We recommend early detection by screening in infants with suggestive clinical presentations, using urine methylmalonic acid/plasma homocysteine as screening tools, maternal screening during pregnancy, and long-term neurodevelopmental follow-up.