Literature DB >> 18410783

Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.

Michael Marble1, Sara Copeland, Nashat Khanfar, David S Rosenblatt.   

Abstract

A neonate with elevated propionylcarnitine on the newborn screen was found to have methylmalonic acidemia due to vitamin B(12) deficiency. The mother was also vitamin B(12)-deficient. This case illustrates the utility of expanded newborn screening for detection of vitamin B(12) deficiency, allowing prompt treatment and prevention of potential sequelae.

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Year:  2008        PMID： 18410783     DOI： 10.1016/j.jpeds.2008.01.023

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  8 in total

1.  Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.

Authors:  Yosuke Shigematsu; Ikue Hata; Go Tajima
Journal:  J Inherit Metab Dis       Date:  2010-05-04       Impact factor: 4.982

2.  Whole blood propionylcarnitine in newborns with orofacial cleft.

Authors:  Kamil K Hozyasz; Mariusz Oltarzewski; Iwona Lugowska; Marta Szymanski; Zbigniew Surowiec
Journal:  Matern Child Nutr       Date:  2011-01       Impact factor: 3.092

3.  Severe megaloblastic anaemia in an infant.

Authors:  Vera Rodrigues; Alexandra Dias; Maria João Brito; Isabel Galvão; Gonçalo Cordeiro Ferreira
Journal:  BMJ Case Rep       Date:  2011-05-16

4.  A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

Authors:  Susann Gailus; Terttu Suormala; Ayse Gül Malerczyk-Aktas; Mohammad R Toliat; Tanja Wittkampf; Martin Stucki; Peter Nürnberg; Brian Fowler; Julia B Hennermann; Frank Rutsch
Journal:  J Inherit Metab Dis       Date:  2010-02-03       Impact factor: 4.982

5.  Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Authors:  C Prasad; D S Rosenblatt; K Corley; A E L Cairney; C A Rupar
Journal:  J Inherit Metab Dis       Date:  2008-10-29       Impact factor: 4.982

6.  Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Authors:  Judit García-Villoria; Antonia Ribes; Sonia Pajares; Jose Antonio Arranz; Aida Ormazabal; Mireia Del Toro; Ángeles García-Cazorla; Aleix Navarro-Sastre; Rosa María López; Silvia María Meavilla; Mariela Mercedes de Los Santos; Camila García-Volpe; Jose Manuel González de Aledo-Castillo; Ana Argudo; Jose Luís Marín; Clara Carnicer; Rafael Artuch; Frederic Tort; Laura Gort; Rosa Fernández
Journal:  Orphanet J Rare Dis       Date:  2021-04-30       Impact factor: 4.123

7.  Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Authors:  Xinwen Huang; Dingwen Wu; Lin Zhu; Wenjun Wang; Rulai Yang; Jianbin Yang; Qunyan He; Bingquan Zhu; Ying You; Rui Xiao; Zhengyan Zhao
Journal:  Orphanet J Rare Dis       Date:  2022-02-21       Impact factor: 4.123

8.  High incidence of low vitamin B12 levels in Estonian newborns.

Authors:  Karit Reinson; Kadi Künnapas; Annika Kriisa; Mari-Anne Vals; Kai Muru; Katrin Õunap
Journal:  Mol Genet Metab Rep       Date:  2018-01-11
  8 in total

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