Abstract
We describe three unrelated patients who were the offspring of mothers on unrestricted diets and presented with signs and symptoms consistent with either an acquired or inborn error of B12 metabolism. All were solely breast-fed.
All three children showed good recovery after B12 replacement, although mild hypotonia still persists in the 3rd patient. These patients demonstrate that mothers without overt signs of pernicious anemia or B12 deficiency can have children with B12 deficiency with anemia and neurologic abnormalities. Acquired infant B12 deficiency must be considered despite a maternal dietary history that includes animal proteins.
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Nikkel, S., Mhanni, A., Dilling, L. et al. Methylmalonic aciduria, hyperhomocysteinemia, hematologic and/or neurologic abnormalities in 3 infants born to mothers with asymptomatic B12 deficiency. Genet Med 2, 73 (2000). https://doi.org/10.1097/00125817-200001000-00078
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DOI: https://doi.org/10.1097/00125817-200001000-00078