Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening

Abstract

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 breast-fed infants of vitamin B12-depleted mothers. It also demonstrates that urinary methylmalonic acid measurement is a sensitive indicator of tissue vitamin B12 deficiency.

Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature

“…The most common cause of maternal vitamin B 12 deficiency is a vegetarian diet of the mother leading to failure to thrive and neurological and haematological symptoms in more than 15 reported patients [5,11,22,26]. There are 11 further patients described with vitamin B 12 deficiency due to maternal pernicious anaemia and identical symptoms (Table 1) [5,6,8,10,12,14,15,16].…”

Folate and vitamin B12 in relation to lactation: a 9-month postpartum follow-up study

“…B12 insufficiency during lactation may cause anaemia and neurological damage in both the mother and the breast-fed child, as has been reported in vegetarians (Metz, 1970;Michaud et al, 1992;Weiss et al, 2004). If maternal folate stores are insufficient prior to a subsequent conception, the risk of adverse pregnancy outcome such as preterm delivery and birth defects in the following pregnancy is increased (Smits and Essed, 2001).…”

Screening Newborns for Multiple Organic Acidurias in Dried Filter Paper Urine Samples: Method Development

“…Results are expressed in pmol/mmol urinary creatinine and are stratified according to the creatinine concentration (pmol/dL) in the filter paper elution liquid. Abbreviations for the acid names are the same as those in Figure 2. such as cobalamin (17)(18)(19) or potentially biotin and riboflavin deficiency could be acquired because of a maternal deficiency state. Acquired deficiency or inherited dependency on these vitamins in infants has been reported to cause various clinical problems or has the potential to cause metabolic aberrations that may cause mental retardation.…”