| Title | Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening. | | Author(s) | Marble M, Copeland S, Khanfar N, Rosenblatt DS | | Institution | Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children's Hospital of New Orleans, New Orleans, LA, USA. mmarbl1@lsuhsc.edu | | Source | J Pediatr 2008 May; 152(5):731-3. | | MeSH | Anemia, Pernicious
Carnitine
Female
Humans
Infant, Newborn
Neonatal Screening
Pregnancy
Pregnancy Complications, Hematologic
Vitamin B 12 Deficiency
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 18410783 |
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