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  • Clinical Case Report
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Maternal and Pediatric Nutrition Highlights Clinical Case Report

Don’t forget methylmalonic acid quantification in symptomatic exclusively breast-fed infants

European Journal of Clinical Nutrition volume 68, pages 941–942 (2014)Cite this article

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Abstract

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.

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References

  1. Pawlak R, Parrott SJ, Raj S, Cullum-Dugan D, Lucus D . How prevalent is vitamin B12 deficiency among vegetarians? Nutr Rev 2013; 71: 110–117.

    Article  Google Scholar 

  2. Honzik T, Adamovicova M, Smolka V, Magner M, Hruba E, Zeman J . Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency—what have we learned? Eur J Paediatr Neurol 2010; 14: 488–495.

    Article  Google Scholar 

  3. Pepper MR, Black MM . B12 in fetal development. Semin Cell Dev Biol 2011; 22: 619–623.

    Article  CAS  Google Scholar 

  4. Stabler SP . Clinical practice. Vitamin B12 deficiency. N Engl J Med 2013; 368: 149–160.

    Article  CAS  Google Scholar 

  5. Mathey C, Di Marco JN, Poujol A, Cournelle MA, Brevaut V, Livet MO et al. [Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]. Arch Pediatr 2007; 14: 467–471.

    Article  CAS  Google Scholar 

  6. Solomon LR . Disorders of cobalamin (vitamin B12) metabolism: emerging concepts in pathophysiology, diagnosis and treatment. Blood Rev 2007; 21: 113–130.

    Article  CAS  Google Scholar 

  7. Fowler B, Leonard JV, Baumgartner MR . Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008; 31: 350–360.

    Article  CAS  Google Scholar 

  8. Norman EJ, Martelo OJ, Denton MD . Cobalamin (vitamin B12) deficiency detection by urinary methylmalonic acid quantitation. Blood 1982; 59: 1128–1131.

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Département de Biochimie, Toxicologie et Pharmacologie, Institut de Biologie et Pathologie, CHU Grenoble, Grenoble, France

    L Van Noolen, P Faure & C Corne

  2. Neurologie Pédiatrique, Clinique Universitaire de Pédiatrie, CHU Grenoble, Grenoble, France

    M A Nguyen-Morel

Authors
  1. L Van Noolen
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  2. M A Nguyen-Morel
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  3. P Faure
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  4. C Corne
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Correspondence to L Van Noolen.

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Van Noolen, L., Nguyen-Morel, M., Faure, P. et al. Don’t forget methylmalonic acid quantification in symptomatic exclusively breast-fed infants. Eur J Clin Nutr 68, 941–942 (2014). https://doi.org/10.1038/ejcn.2014.69

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  • DOI: https://doi.org/10.1038/ejcn.2014.69

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