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Besides the inherited form, vitamin B₁₂ deficiency may be due to diet restrictions or abnormal absorption. The spread of newborn screening programs worldwide has pointed out that non-inherited conditions are mainly secondary to a maternal deficiency. The aim of our work was to study seven cases of acquired vitamin B₁₂ deficiency detected during our newborn screening project. Moreover, we aimed to evaluate vitamin B₁₂ and related biochemical parameters status on delivering female to verify the consequences on newborns of eventually altered parameters.

35,000 newborns were screened; those showing altered propionyl carnitine (C3) underwent second-tier test for methylmalonic acid (MMA) on dried blood spot (DBS). Subsequently, newborns positive to the presence of MMA on DBS and their respective mothers underwent further tests: serum vitamin B₁₂, holo …