The Journal of Pediatrics
Volume 152, Issue 5 , Pages 731-733 , May 2008

Neonatal Vitamin B12 Deficiency Secondary to Maternal Subclinical Pernicious Anemia: Identification by Expanded Newborn Screening

  • Michael Marble, MD

      Affiliations

    • From the Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children's Hospital of New Orleans, New Orleans, LA
    • Corresponding Author InformationReprint requests: Michael Marble, MD, 200 Henry Clay Avenue, New Orleans, LA 70118.
    • ,
  • Sara Copeland, MD

      Affiliations

    • Division of Medical Genetics, University of Iowa Children's Hospital, Iowa City, IA
    • ,
  • Nashat Khanfar, MD

      Affiliations

    • Progressive Pediatrics, Monroe, LA
    • ,
  • David S. Rosenblatt, MD

      Affiliations

    • Departments of Human Genetics, Medicine and Pediatrics, McGill University, Montreal, Quebec, Canada.

Received 1 August 2007 ,Revised 27 December 2007 ,Accepted 18 January 2008.

References 

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  2. Naylor EW, Chase DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(Suppl 1):S4–S8
  3. Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B. “Classical” organic acidurias, propionic aciduria, methylmalonic aciduria, and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis. 2006;29:383–389
  4. Danielsson L, Enocksson E, Hagenfeldt L, Rasmussen EB, Tillberg E. Failure to thrive due to subclinical maternal pernicious anemia. Acta Paediatr Scand. 1988;77:310–311
  5. Kuhne T, Bubl R, Baumgartner R. Maternal vegan diet causing a serious infantile neurological disorder due to vitamin B12 deficiency. Eur J Pediatr. 1991;150:205–208
  6. Weiss R, Fogelman Y, Bennett M. Severe vitamin B12 deficiency in an infant associated with a maternal deficiency and a strict vegetarian diet. J Pediatr Hematol Oncol. 2004;26:270–271
  7. Codazzi D, Sala F, Parini R, Langer M. Coma and respiratory failure in a child with severe vitamin B12 deficiency. Pediatr Crit Care Med. 2005;6:483–485
  8. Korenke GC, Hunneman DH, Eber S, Hanefeld F. Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature. Eur J Pediatr. 2004;163:196–201
  9. Campbell CD, Ganesh J, Ficicoglu C. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica. 2005;90(12 Suppl):ECR 45
  10. Wiley V, Carpenter K, Wilcken B. Newborn screening with tandem mass spectrometry: 12 months experience in NSW Australia. Acta Paediatr Suppl. 1999;432:48–51
  11. Holleland G, Schneede J, Ueland PM, Lund PC, Refsum H, Sandberg S. Cobalamin deficiency in general practice: assessment of the diagnostic utility and cost–benefit analysis of methylmalonic acid determination in relation to current diagnostic strategies. Clin Chem. 1999;45:189–198
  12. Andersson HC, Shapira E. Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (CblC). J Pediatr. 1998;132:121–124
  13. Kushnir MM, Shushan B, Roberts WL, Pasquali M. Serum acylcarnitines and vitamin B12 deficiency. Clin Chem. 2002;48:1126–1128

PII: S0022-3476(08)00064-4

doi: 10.1016/j.jpeds.2008.01.023

The Journal of Pediatrics
Volume 152, Issue 5 , Pages 731-733 , May 2008

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