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Updated: Apr 30, 2026
Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
Don't forget methylmalonic acid quantification in symptomatic exclusively breast-fed infants
L Van Noolen1, M A Nguyen-Morel2, P Faure1
1Département de Biochimie, Toxicologie et Pharmacologie, Institut de Biologie et Pathologie, CHU Grenoble, Grenoble, France.
Vitamin B12 deficiency can lead to serious haematological and neurological signs in infants. The reported clinical cases of vitamin B12 deficiency were found in exclusively breast-fed infants whose asymptomatic mothers were diagnosed later with pernicious anaemia. For the infants, the diagnosis required urinary methylmalonic acid quantification (grossly elevated in these two cases) and treatment rapidly improved the clinical signs. These cases underline the serious consequences of vitamin B12 deficiency in infants and the helpful role of early methylmalonic acid quantification for diagnosis.
Vitamin B12 deficiency can lead to serious haematological and neurological signs in infants. The reported clinical cases of vitamin B12 deficiency were found in exclusively breast-fed infants whose asymptomatic mothers were diagnosed later with pernicious anaemia. For the infants, the diagnosis required urinary methylmalonic acid quantification (grossly elevated in these two cases) and treatment rapidly improved the clinical signs. These cases underline the serious consequences of vitamin B12 deficiency in infants and the helpful role of early methylmalonic acid quantification for diagnosis.
