GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, cilt.15, sa.2, ss.30-36, 2017 (ESCI)
Introduction: We observed increased methylmalonic acid (MMA) excretion in urine in some cases referred to the centre by the Ministry of Health on suspicion of phenylketonuria and biotinidase deficiency detected by newborn screening. The etiology of increased urine MMA in almost all patients was vitamin B12 deficiency. Because vitamin B12 deficiency could cause severe neurological damage, we need to report its frequency for the cases referred to the outpatient clinic in this study. In addition, the previous studies on vitamin B12 deficiency mostly represent the cases with hematological findings and there is not enough research concerning infants with no complaints considered healthy by their families. Therefore, we also aimed to determine serum normal lower limit of vitamin B12 in this study.