title: Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.
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.
authors.affiliation: 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
authors.forename: Michael
authors.initials: M
authors.lastname: Marble
authors.forename: Sara
authors.initials: S
authors.lastname: Copeland
authors.forename: Nashat
authors.initials: N
authors.lastname: Khanfar
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenblatt
mesh_terms: D000752:Anemia, Pernicious / Q000150:complications; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology; D014806:Vitamin B 12 Deficiency / Q000097:blood / Q000175:diagnosis* / Q000209:etiology
chemical_list: C003223:propionylcarnitine; D002331:Carnitine