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; received in revised form 27 December 2007; accepted 18 January 2008.

A neonate with elevated propionylcarnitine on the newborn screen was found to have methylmalonic acidemia due to vitamin B12 deficiency. The mother was also vitamin B12-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B12 deficiency, allowing prompt treatment and prevention of potential sequelae.

Abbreviations: MMA, Methylmalonic acid, MS/MS, Tandem mass spectrometry, NBS, Newborn screening, OHCbl, Hydroxycobalamin

To access this article, please choose from the options below

Login to an existing account or Register a new account.

  • Purchase this article for 30.00 USD (You must login/register to purchase this article)

    Online access for 24 hours. The PDF version can be downloaded as your permanent record.

  • Subscribe to this title

    Get unlimited online access to this article and all other articles in this title 24/7 for one year.

  • Claim access now

    For current subscribers with Society Membership or Account Number.

  • Visit SciVerse ScienceDirect to see if you have access via your institution.
 

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

Article Tools